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Gene: Chrne MGI:87894

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cholinergic receptor, nicotinic, epsilon polypeptide
Synonyms:
AChrepsilon,  Acre

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrne mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrne by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Fatigable weakness, Arthrogryposis ... OMIM:608931
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Weakness of facial musculature, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:616324

The table below shows human diseases predicted to be associated to Chrne by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Inability to walk, Quadriceps muscle wea... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, Type 2U
Hand muscle atrophy, Hand muscle weakness, Distal amyotrophy, Steppage gait, Gait disturbance, Di... OMIM:616280
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Waddling gait, Spinal muscular atrophy, Type 2 muscle fiber predominance, Proximal muscle weaknes... OMIM:158600
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Abnormal peripheral nervous system synaptic transmission, Facial palsy, General... ORPHA:353327
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Gait disturbance, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Type 2 ... ORPHA:2593
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Short stature, Decreased body weight ORPHA:401805
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Neuronopathy, Distal Hereditary Motor, X-Linked
Distal amyotrophy, Unsteady gait, Spinal muscular atrophy OMIM:300489
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Prolonged miniature endp... OMIM:603034
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness, Difficulty walking OMIM:615025
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... ORPHA:178464
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness OMIM:618036
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Orthopnea, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Distal amyotrophy, Gait distu... OMIM:615043
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle ... OMIM:612335
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Respiratory insufficiency, Decreased miniature endplate potentials, Prolonged miniature endplate ... OMIM:616321
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal amyotrophy, Steppage gait, Gait disturbance OMIM:616625
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture, Tip-toe gait, Difficulty walking, Spastic gait ORPHA:401785
Myasthenic Syndrome, Congenital, 18
Fatigable weakness, Neonatal respiratory distress, Knee flexion contracture OMIM:616330
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, P... OMIM:601462
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions OMIM:614750
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Nonaka Myopathy
Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal lower limb muscle weakn... OMIM:605820
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Dysequilibrium Syndrome
Skeletal muscle atrophy, Short stature, Ataxia, Gait disturbance ORPHA:1766
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Short stature, Scissor gait, Gait disturbance OMIM:615686
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Lower limb muscle weakness OMIM:617046
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Spastic Paraplegia 57, Autosomal Recessive
Loss of ambulation, Optic atrophy, Lower limb amyotrophy, Hand muscle atrophy OMIM:615658
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... OMIM:616040
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Unsteady... ORPHA:139536
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Tip-toe gait, Spastic gait, Difficulty walking OMIM:615681
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrophy, Weak... OMIM:608930
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Optic atrophy, Upper limb mus... OMIM:618511
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Rimmed vacuoles OMIM:604454
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, D... OMIM:615575
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Loss of ambulation, Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Distal am... OMIM:253400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Distal amyotro... OMIM:607641
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... OMIM:619519
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag... OMIM:607678
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Spastic gait OMIM:612539
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Multiple joint contractures OMIM:616227
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Gait disturbance ORPHA:357043
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag... OMIM:302801
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Diffic... OMIM:500002
Gemignani Syndrome
Skeletal muscle atrophy, Ataxia, Short stature, Delayed puberty ORPHA:2074
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex congenita OMIM:611369
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Respiratory insufficiency, Muscle fiber cytoplasmatic inclusion bodies, Mu... OMIM:609524
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Difficulty walking OMIM:616282
Nemaline Myopathy 6
Skeletal muscle atrophy, Myopathy, Gait disturbance, Limb muscle weakness, Nemaline bodies OMIM:609273
Autosomal Spastic Paraplegia Type 30
Ataxia, Unsteady gait, Scissor gait, Distal amyotrophy, Leg muscle stiffness, Spastic gait ORPHA:101010
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Difficulty walking OMIM:615048
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Fatigable w... OMIM:616313
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... OMIM:608323
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... OMIM:620286
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Spastic gait OMIM:610250
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Lower limb muscle weakness ORPHA:488594
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Waddling gait, Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal a... OMIM:611067
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Inability to walk, Gait disturbance, Joint contracture, Lower limb muscl... OMIM:611225
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Flexion contracture, Ataxia OMIM:611105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, In... ORPHA:101077
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s... OMIM:617760
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... OMIM:608423
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... OMIM:613287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Fatigable weakness, Myopathy, Type... ORPHA:424107
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Limb-girdle muscle... OMIM:604286
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy, Short stature ORPHA:2380
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Central... OMIM:254110
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, D... OMIM:609285
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakne... OMIM:620389
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... OMIM:300695
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia, Simplified gyral pattern OMIM:613402
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Gait disturbance, Delayed puberty OMIM:615683
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co... ORPHA:370980
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Optic atrophy, Upper limb amyotrophy, Difficulty walking, Lower limb amyotroph... OMIM:617087
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... ORPHA:596
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased nerve conduction velocity, ... ORPHA:90103
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:618654
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Short stature, Facial palsy, Neck joint contracture, Achilles tendon con... OMIM:255600
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy, Spastic gait, Gait imbalance ORPHA:247604
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Bradykinesia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Ataxia OMIM:183050
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Dyspnea, Decreased compound muscle action potential amplitude, Flexion contracture,... OMIM:603511
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Distal lower limb muscle weakness, Interosseus muscle atrophy, Spinal muscular... OMIM:607088
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Upper limb muscle weakness, Distal amyotrophy, Steppage gait OMIM:607677
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal musc... OMIM:608358
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness, Calf muscle hypertrophy OMIM:618197
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... OMIM:619042
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... ORPHA:598
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Calf... OMIM:619178
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Spastic gait OMIM:613162
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Quadriceps muscle weakness, Achilles tendon contracture... OMIM:603689
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy ORPHA:2589
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... ORPHA:98856
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Respiratory insufficiency, Abnormality of... ORPHA:171445
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Dysmetria, Loss of ambulation, Lower... OMIM:312920
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Respiratory insufficiency... OMIM:300696
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Unsteady gait, Limb ataxia, G... ORPHA:3115
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Van Den Bosch Syndrome
Scapular winging, Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ORPHA:3417
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Facial dip... OMIM:618184
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Facial palsy, Distal amyotrophy, Steppage gait, Limb m... OMIM:118210
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Reduced forced vital capacity, Limb-girdle... OMIM:620386
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Scapuloperoneal amyotrophy, Achilles tendon contracture, Hams... OMIM:613205
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Inability to walk, Achilles tendon contracture, Proximal amyotrophy... ORPHA:2596
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Inability to walk, Type 1 muscle fiber predominance, Failure to ... OMIM:618276
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Calf muscle hypertrophy, Gait... ORPHA:101081
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,... OMIM:167320
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Abnorma... OMIM:605253
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Fatty replacemen... ORPHA:1320
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Fatigable weakness, Arthrogryposis ... OMIM:608931
Congenital Myopathy 14
Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El... OMIM:618414
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Lower-limb joint contracture, Difficulty walking, Skeletal muscle atrophy OMIM:613710
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Foot dorsiflexor weakness OMIM:617207
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Myasthenic Syndrome, Congenital, 10
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Proximal amyotrophy, Fa... OMIM:254300
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle weakness, Deposits immunor... OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... OMIM:253601
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Broad-based gait, Intrinsic h... OMIM:614895
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... ORPHA:100998
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... OMIM:160500
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Joint contracture, Failure to thrive, Spinal muscular atrophy OMIM:616081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Restricti... OMIM:253700
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Limb muscle weak... OMIM:607458
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velo... OMIM:614399
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Distal Myotilinopathy
Multiple joint contractures, Loss of ability to walk in first decade, Distal amyotrophy, Difficul... ORPHA:98911
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:612999
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Gait disturbance, Proximal amyotrophy OMIM:608030
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Gait disturbance ORPHA:99944
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Incre... OMIM:300717
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Merrf
Myopathy, Ragged-red muscle fibers, Optic atrophy ORPHA:551
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Gait disturbance ORPHA:101078
Spastic Paraplegia 70, Autosomal Recessive
Growth delay, Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Respiratory insufficiency,... OMIM:160565
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus... OMIM:620265
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon contracture, Proximal a... OMIM:606612
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness in upper limbs, Calf muscle p... ORPHA:352479
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Respiratory insufficiency due to muscle weakness, Flexion contracture, Increased variability in m... OMIM:300718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Childhood-Onset Nemaline Myopathy
Scapular winging, Reduced vital capacity, Fatigable weakness of bulbar muscles, Respiratory insuf... ORPHA:171439
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ... OMIM:118300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Calf muscle hypertrophy, Muscular dystrophy, Difficulty wa... OMIM:601287
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Broad-based gait, Scapular winging,... ORPHA:435387
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Decreased nerve conduction velocity, Inability to walk, Upper limb muscle weakness, Distal amyotr... ORPHA:99939
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Nathalie Syndrome
Growth delay, Skeletal muscle atrophy OMIM:255990
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness, Facial palsy, Respiratory insufficiency OMIM:616322
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency, Proximal amyotrophy, My... OMIM:605355
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Respiratory insufficiency OMIM:616325
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Thenar muscle atrophy, Distal amyotrophy, Steppage gait, Difficulty walking, Foot dorsiflexor wea... OMIM:606483
Cap Myopathy
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Fatiguable weakness of p... ORPHA:171881
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Dysmetria, Gait ataxia, Difficulty walking, Lower limb muscle we... OMIM:616907
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppag... OMIM:605588
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness... OMIM:310440
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Neuromyotonia, Foot dorsiflexor weakness OMIM:137200
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit... OMIM:617066
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Distal ... OMIM:270685
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Steppage gait... OMIM:302802
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Gait ataxia, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dors... OMIM:618387
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexion contracture, In... ORPHA:171442
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Rigid Spine Syndrome
Waddling gait, Skeletal muscle atrophy, Hip contracture, Elbow flexion contracture, Hamstring con... ORPHA:97244
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Myopathy, Distal, 3
Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, Joint contrac... OMIM:610099
Congenital Myopathy 3 With Rigid Spine
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... OMIM:602771
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Upper limb muscle weakness, Gait di... OMIM:615284
Spastic Paraplegia 30, Autosomal Dominant
Ataxia, Lower limb muscle weakness, Dysmetria, Lower limb amyotrophy, Spastic gait OMIM:610357
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Ataxia, Lower limb amyotrophy, Steppage gait, Falls, Gait disturbance, Difficulty ... OMIM:617882
Combined Oxidative Phosphorylation Deficiency 6
Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... OMIM:300580
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Short stature, Optic atrophy, Decreased body weight, Delayed puberty ORPHA:477814
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... OMIM:617072
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive, Dysmetria OMIM:618251
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:868
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Inability to walk, Optic atrophy, Difficulty walking, Delayed menarche ORPHA:330050
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Leber Optic Atrophy And Dystonia
Bradykinesia, Athetosis, Optic atrophy, Skeletal muscle atrophy OMIM:500001
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Weakness of facial musculature, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:616324
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy, Distal amyotrophy, L... OMIM:608627
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Mitochondrial Complex I Deficiency, Nuclear Type 23
Growth delay, Skeletal muscle atrophy OMIM:618244
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness, Steppage gait OMIM:620378
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Generalized amyotrophy, Loss of ... OMIM:616516
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic atrophy, Left ventricular hypertrophy, ... OMIM:618228
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... OMIM:616827
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Reduced forced vital capacity, Achilles ... OMIM:620249
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Distal arthrogryposis, Knee flexion contracture OMIM:616286
Hypokalemic Periodic Paralysis
Fatigable weakness of respiratory muscles, Respiratory paralysis, Increased intramyocellular lipi... ORPHA:681
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Falls, Weakness of facial musculature, Failure to thrive,... OMIM:618811
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness OMIM:254190
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia ORPHA:1188
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Typical Nemaline Myopathy
Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal limb mus... ORPHA:171436
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Difficulty walking, ... ORPHA:171433
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance ORPHA:157973
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Flexion contracture, Muscular dystrophy OMIM:613723
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... OMIM:255160
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Oxoglutarate Dehydrogenase Deficiency
Unsteady gait, Dysmetria, Gait ataxia, Falls, Generalized amyotrophy OMIM:203740
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Facial palsy, Cachexia, Abnormal autonomic ne... ORPHA:97229
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, Type 1 muscle fiber predominance, Nemalin... OMIM:617336
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Respiratory insufficiency due to muscle weakness, Increased endomysial connective tissue, Flexion... OMIM:607855
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... OMIM:611890
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Distal amyotrophy, Steppage gait, Tip-toe gait, Foot d... OMIM:614436
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Growth delay OMIM:614932
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... ORPHA:101085
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:3239
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609560
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Inability t... ORPHA:457205
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:2400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Fried Syndrome
Skeletal muscle atrophy, Gait disturbance ORPHA:85335
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Fatigable weakness of respiratory muscles, Skeletal muscle atrophy, Limb muscle weakness, Weaknes... ORPHA:329336
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ... OMIM:255310
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Broad-based gait, Ataxia, Short stature, Inability to walk, Limb ataxia,... OMIM:617695
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fatigable weakness of bulbar muscles, Dys... ORPHA:803
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, Increased variability... OMIM:226670
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:101082
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Optic atrophy, Dysmetria, Abnormality of masticatory muscle, Bradykinesi... ORPHA:98755
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia ORPHA:480
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Pure Mitochondrial Myopathy
Scapular winging, Fatigable weakness of bulbar muscles, Quadriceps muscle weakness, Rhabdomyolysi... ORPHA:254854
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital capacity, Fatt... ORPHA:329478
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Arthrogrypos... ORPHA:2254
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Shufflin... ORPHA:209335
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture, Ataxia, Gait disturbance, Failure to thrive ORPHA:309162
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we... OMIM:254090
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Bethlem Myopathy
Hypoventilation, Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Inter... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Broad-based gait, Ataxia, Unsteady gait, Ragged-red muscle fibers, Dysme... OMIM:616479
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Short stature, Growth delay, Athetosis, Gen... OMIM:605013
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Fatigable weakness, Stridor, Arthr... OMIM:617143
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Obesity, Tip-toe gait, Lower limb muscle ... OMIM:604360
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Abnormal lower motor ... OMIM:205100
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Gait disturbance ORPHA:100988
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... OMIM:616470
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... ORPHA:324604
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy ORPHA:98896
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105400
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Short stature, Centrally nucleated skeletal muscle fibers, Flexi... OMIM:248800
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Difficulty walking OMIM:616684
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond... OMIM:604320
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex ... ORPHA:178148
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Knee flexion ... ORPHA:3208
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu... ORPHA:324581
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly OMIM:618393
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atrophy, Increased variabi... OMIM:258450
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Reduced forced vital capacity, Increased variability in mus... OMIM:620161
Lissencephaly 8
Skeletal muscle atrophy, Optic atrophy, Polymicrogyria, Agyria, Type II lissencephaly OMIM:617255
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Flexion contracture... OMIM:616867
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atrophy, Myopathy, Difficu... ORPHA:254875
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cachexia, Fatigable weakness, Myopathy, Distal arthrogryposis, Fatigable... ORPHA:42
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Short stature, Cachexia, Decreased nerve conduction velocity ORPHA:1933
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Ataxia, Gait disturbance OMIM:618239
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... ORPHA:600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postnatal growth retardation,... OMIM:615419
Pelizaeus-Merzbacher Disease, Connatal Form
Ataxia, Abnormal morphology of musculature of pharynx, Short stature, Inability to walk, Dystonic... ORPHA:280210
Myopathy, Myofibrillar, 8
Scapular winging, Reduced vital capacity, Centrally nucleated skeletal muscle fibers, Achilles te... OMIM:617258
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respiratory insufficienc... ORPHA:486815
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Ataxia, Inability to walk, Optic atrophy, Impaired tandem gait, Upper li... ORPHA:254930
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respiratory insuffici... OMIM:255200
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Dyspnea, Ragged-red muscle fibers, Respiratory insufficiency, Proximal amyotrophy, ... OMIM:615084
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Short stature OMIM:230650
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... ORPHA:52430
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Decreased compound muscle action potential amplitude, Bronchiectasis, Small the... OMIM:620080
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Optic atrophy, My... ORPHA:254886
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy, Achalasia OMIM:221350
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Ragged-red musc... ORPHA:663
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Myopathy ORPHA:300179
Spastic Paraplegia Type 7
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle weakness, Lower lim... ORPHA:99013
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spastic ataxia, Spinal muscular atrophy, Optic atrophy, Growth delay, Distal amyotrophy, Foot dor... ORPHA:496756
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Myopathy, Abdominal obesity, Muscular dystrophy, Lower limb muscle weakness OMIM:615980
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Resp... ORPHA:169186
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Failure to thrive, Ataxia, Optic atrophy, Facial diplegia, Facial paralysis OMIM:613559
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Optic atrophy, Central core regions in muscle fib... ORPHA:401768
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Respiratory insufficie... OMIM:619518
Spastic Paraplegia 39, Autosomal Recessive
Distal amyotrophy, Distal lower limb muscle weakness, Ataxia, Gait disturbance OMIM:612020
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Inability to walk, Joint contracture, Optic atrophy, Skeletal muscle atrophy OMIM:617481
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness,... OMIM:613561
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompaction, Inc... OMIM:252011
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105550
Ataxia-Telangiectasia
Skeletal muscle atrophy, Short stature, Ataxia, Gait disturbance, Delayed puberty, Failure to thrive ORPHA:100
Camurati-Engelmann Disease, Type 2
Waddling gait, Skeletal muscle atrophy, Hip contracture, Knee flexion contracture, Delayed puberty OMIM:606631
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98863
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Ataxia, Cachexia, Inability to walk, Uppe... ORPHA:300605
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... ORPHA:98853
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... OMIM:253310
Kennedy Disease
Skeletal muscle atrophy, Gait disturbance ORPHA:481
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Limb ataxia, Gait ataxia OMIM:616719
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Short stature ORPHA:2013
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Melorheostosis
Skeletal muscle atrophy, Failure to thrive ORPHA:2485
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Short stature, Small for gestational age, Failure to thrive in i... ORPHA:59
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Sialidosis Type 2
Skeletal muscle atrophy, Flexion contracture, Ataxia, Short stature ORPHA:87876
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Optic disc pallor, Multiple joint contractures, Optic atrophy, Dist... ORPHA:320406
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Respiratory ... ORPHA:169189
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Short stature OMIM:162100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Optic atrophy, Dysmetria, Athetosis, Generalized amyotrophy, Int... OMIM:617710
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Congenital Myopathy 19
Facial hypotonia, Skeletal muscle atrophy, Congenital contracture, Gait disturbance OMIM:618578
Congenital Myasthenic Syndrome
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... ORPHA:98914
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Respiratory insufficiency, Centrally nucleated s... OMIM:615959
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased compound muscle ... OMIM:602433
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... ORPHA:352447
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Gait disturbance ORPHA:2840
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia OMIM:274240
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures ORPHA:2028
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Gait disturbance, Myopathy, Short stature ORPHA:85329
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Broad-based gait, Flexion contracture of finger, Ataxia, Decreased senso... OMIM:609033
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Short stature, Small for ges... OMIM:612073
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic disc pallor, Optic atro... OMIM:164400
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy, Unsteady gait OMIM:300614
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Failure to thrive OMIM:618603
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Rett Syndrome
Skeletal muscle atrophy, Inability to walk, Bradykinesia, Gait disturbance, Abnormal autonomic ne... ORPHA:778
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Severe short stature, Ataxia, Optic atrophy, Myopathy, Muscular dystroph... ORPHA:559
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Ataxia, Gait apraxia, Limb ataxia, Dysmetria, Gait ataxia, Bradykinesia,... OMIM:615157
Becker Muscular Dystrophy
Skeletal muscle atrophy, Tip-toe gait, Falls, Difficulty walking ORPHA:98895
Spinocerebellar Ataxia Type 3
Progressive cerebellar ataxia, Skeletal muscle atrophy ORPHA:98757
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
L1 Syndrome
Aganglionic megacolon, Skeletal muscle atrophy, Gait disturbance ORPHA:275543
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Dysmetria, Intrauterine growth retardation OMIM:615578
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Broad-based gait, Short stature, Growth delay, Contractures of the large... OMIM:616716
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increas... OMIM:620278
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Oxoglutaric Aciduria
Skeletal muscle atrophy, Ataxia, Short stature ORPHA:31
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Dysmetria, Dysdiadochokinesis, Gait disturbance ORPHA:96
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Foot dorsiflexor w... ORPHA:466768
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Optic atrophy, Limb hypertonia OMIM:619527
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Growth delay, Skeletal muscle atrophy, Short stature OMIM:619759
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers OMIM:618416
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Skeletal muscle atrophy, Joint contracture, Delayed puberty OMIM:615704
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Stridor, Triceps weakn... OMIM:619574
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Gait disturbance ORPHA:101006
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... OMIM:619542
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Short stature, Growth delay, Gait disturbance, Foot dorsiflexor weakness OMIM:616586
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity, Flexion contract... OMIM:615368
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:162400
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Optic neuropathy, Tibialis muscle weakness, Optic atrophy, Upper limb mu... ORPHA:320375
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Flexion contracture, Increased variabilit... OMIM:616866
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature ORPHA:85323
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia ORPHA:2047
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Optic atrophy, Myopathy, Gait disturbance, Tem... ORPHA:98673
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Abnorma... ORPHA:367
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Difficulty walking, Truncal ataxia ORPHA:276198
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Limb joint contracture, Short stature, Delayed puberty OMIM:612079
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Ataxia, Limb ataxia, Gait ataxia, Truncal ataxia OMIM:614153
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Short stature, Inability to walk, Athetosis, Failure to thrive OMIM:257200
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Dysmetria, Gait ataxia ORPHA:98771
Myasthenia Gravis
Fatigable weakness, Limb muscle weakness, Facial palsy OMIM:254200
Rett Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia OMIM:312750
Sialidosis Type 1
Skeletal muscle atrophy, Short stature, Ataxia, Decreased nerve conduction velocity, Gait disturb... ORPHA:812
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy ORPHA:970
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy OMIM:105300
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu... OMIM:616239
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Arthrogryposis multiplex congenita OMIM:232500
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Renpenning Syndrome
Skeletal muscle atrophy, Cachexia ORPHA:3242
Cog8-Cdg
Skeletal muscle atrophy, Failure to thrive, Ataxia ORPHA:95428
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Myopathy, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Muscular dystrophy, Mus... ORPHA:369840
Oculopharyngodistal Myopathy 1
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... OMIM:164310
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy ORPHA:269
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Optic atrophy, Gait ataxia, Loss of ambulation OMIM:620089
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Gait imbalance, Truncal ataxi... OMIM:211530
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Difficulty walki... ORPHA:513436
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Broad-based gait, Scapular winging, Ataxia, Centrally nucleated skeletal... OMIM:607459
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Failure to thrive, Skeletal muscle atrophy OMIM:616420
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia OMIM:607598
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Ragged-red muscle fibers ORPHA:1349
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture OMIM:614678
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Skeletal muscle atrophy, Hip contracture, Short stature, Shoulder flexion contract... OMIM:255800
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Failure to thrive OMIM:245400
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy OMIM:616828
Developmental And Epileptic Encephalopathy 51
Inability to walk, Failure to thrive, Skeletal muscle atrophy OMIM:617339
Walker-Warburg Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Pachygyria, Optic atrophy, Abnormality of ne... ORPHA:899
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Abnor... ORPHA:298
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Ataxia, Loss of ability to walk in first decade, Flexion contracture, Tr... OMIM:300243
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle ... OMIM:618733
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology ORPHA:3068
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Ataxia, Inability to walk, Flexion contracture, Difficulty walking, Fail... ORPHA:481152
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy OMIM:616896
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, De... ORPHA:276244
Neuraminidase Deficiency
Skeletal muscle atrophy, Short stature, Dysmetria OMIM:256550
Snakebite Envenomation
Epistaxis, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Muscle fiber necrosis ORPHA:449285
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Skeletal muscle atrophy ORPHA:156
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps muscle weakne... ORPHA:70
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... ORPHA:258
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Flexion contracture, Skeletal muscle hypertrophy, Myopathy, Gait disturb... ORPHA:682
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Fatigable weakness of ... ORPHA:2020
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Steppage gait, Abnormality of peripheral nerve conduction ORPHA:168563
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Short stature, Growth delay, Tip-toe gait, Spastic gait ORPHA:447760
Polymyositis
Cough, Exertional dyspnea, Respiratory insufficiency, Abnormal muscle fiber morphology ORPHA:732
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short stature ORPHA:1486
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Short stature OMIM:618862
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Agyria, Flexion contracture, Optic atrophy, Calf muscle hypertrophy, Lis... OMIM:253800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Restrictive ventilatory defect, Scapular winging, Ragged-red muscle fibers, Generalized limb musc... OMIM:600462
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Growth delay, Skeletal muscle atrophy, Flexion contracture, Short stature ORPHA:75496
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Fatigable weakness of neck muscles, In... ORPHA:26791
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Perisylvian polymicrogyria, Flexion contrac... OMIM:618291
Ruijs-Aalfs Syndrome
Skeletal muscle atrophy, Elbow flexion contracture, Decreased body weight OMIM:616200
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Car... OMIM:616503
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Failure to thrive OMIM:619272
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Truncal obesity ORPHA:127
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Ataxia, Dysmetria, Gait disturbance, Lower limb muscle weakness ORPHA:88644
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Cranial nerve compression, Delayed puberty, Optic nerve c... OMIM:131300
Adenylosuccinase Deficiency
Growth delay, Inability to walk, Skeletal muscle atrophy, Gait ataxia OMIM:103050
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy ORPHA:230839
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Failure to thrive OMIM:614300
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Small for gestational age, Choreoathetosis, Growth delay, Type 2... OMIM:615471
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Pachygyria, Polymicrogyria, Knee flexion contracture OMIM:603387
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Bradykinesia, Abnormal autonomic nervou... OMIM:146500
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Skeletal mu... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Progressive cerebellar ataxia, Progressive gait ataxia, Skeletal mu... ORPHA:276241
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Short stature, Flexion contracture OMIM:300232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Choreoacanthocytosis
Skeletal muscle atrophy, Progressive choreoathetosis, Limb muscle weakness OMIM:200150
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Ataxia, Inability to walk, Optic atrophy, Growth delay, Arthrogryposis m... OMIM:617193
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive ORPHA:90045
Donohue Syndrome
Severe failure to thrive, Skeletal muscle atrophy, Postnatal growth retardation, Intrauterine gro... OMIM:246200
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Pachygyria, Flexion contracture, Abnormality... ORPHA:2671
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy, Failure to thrive, Skeletal muscle atrophy OMIM:210210
Trisomy 17P
Skeletal muscle atrophy, Short stature, Flexion contracture, Growth delay, Macroglossia, Intraute... ORPHA:261290
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... ORPHA:1358
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Obesity ORPHA:110
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Decreased body weight OMIM:614856
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Truncal obesity OMIM:219080
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture OMIM:619183
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Short stature, Optic atrophy, Abnormality of neuronal migration, Gait di... ORPHA:192
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Recurrent pneumonia, Elbow flexion contracture, EMG: myopathic abnormaliti... ORPHA:1900
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Unsteady gait, Myopathy, Failure to thrive OMIM:615512
Pontocerebellar Hypoplasia, Type 7
Choreoathetosis, Skeletal muscle atrophy, Optic atrophy, Ataxia OMIM:614969
Sandhoff Disease
Macroglossia, Skeletal muscle atrophy, Orthostatic hypotension, Ataxia OMIM:268800
Native American Myopathy
Skeletal muscle atrophy, Short stature, Inability to walk, Abnormality of skeletal muscle fiber s... ORPHA:168572
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Short stature, Upper limb muscle weakness, Growth delay, Distal amyotrop... ORPHA:101000
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Failure to thrive OMIM:615934
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Short stature, Postnatal growth retardation, Limb-girdle muscle weakness... ORPHA:79240
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Failure to thrive, Short stature, Intrauterine growth retardation ORPHA:94063
Tay-Sachs Disease
Skeletal muscle atrophy, Hip flexor weakness, Quadriceps muscle atrophy, Inability to walk, Optic... ORPHA:845
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Flexion contracture, Recurrent pneumonia, Skeletal mu... OMIM:613327
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Ataxia, Limb joint contracture, Short stature, Flexion contracture, Trun... OMIM:301072
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Failure to thrive OMIM:615802
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Optic atrophy, Choreoathetosis, Ath... ORPHA:506
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the abdomi... ORPHA:2990
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Respira... ORPHA:254892
Tick-Borne Encephalitis
Skeletal muscle atrophy, Facial palsy, Abnormal glossopharyngeal nerve morphology, Abnormal auton... ORPHA:297
Refsum Disease
Skeletal muscle atrophy, Ataxia ORPHA:773
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Abdominal obesity, Obesity OMIM:219090
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Ataxia, Optic atrophy, Growth delay, Arthrogryposis multiplex congenita ORPHA:496641
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ataxia, Knee flexion contracture ORPHA:435638
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Failure to thrive, Dupuytren contracture ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Small for gestational age OMIM:618252
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Skeletal muscle atrophy, Torticollis, Intrauterine growth retardation ORPHA:251061
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Short stature, Increased sarcoplasmic glycogen, Increased body weight, G... ORPHA:264580
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Ragged-red muscle fibers, G... OMIM:252010
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Unsteady gait, Flexion contracture, Ragged-red muscle fibers, Rhabdomyol... ORPHA:17
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Rhabdomyolysis, Respiratory paralysis, Increased intramyocellul... ORPHA:79102
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Camptodactyly of finger, Congenital ... ORPHA:2215
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... ORPHA:206572
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy OMIM:613154
Werner Syndrome
Skeletal muscle atrophy, Slender build ORPHA:902
Farber Disease
Skeletal muscle atrophy, Failure to thrive, Flexion contracture ORPHA:333
Recon Progeroid Syndrome
Growth delay, Skeletal muscle atrophy, Short stature OMIM:620370
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Short stature, Growth delay, Intrauterine growth retardation, Failure to... OMIM:608779
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Failure to thrive, Flexion contracture, Decreased body weight ORPHA:89842
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Broad-based gait, Ataxia, Short stature, Growth delay, Loss of ambulatio... OMIM:256810
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial palsy, Paucity of ante... ORPHA:79139
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Failure to thrive OMIM:615895
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia ORPHA:1969
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Optic atrophy, Delayed pu... ORPHA:1328
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Short stature, Camptodactyly, Arthrogryposis multiplex congenita, Joint ... OMIM:601701
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Shoulder flexion contracture, Cachexia, ... ORPHA:800
Primary Triglyceride Deposit Cardiomyovasculopathy
Dyspnea, Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, ... ORPHA:565612
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:109
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Moebius Syndrome
Skeletal muscle atrophy, Aplasia of the pectoralis major muscle, Arthrogryposis multiplex congeni... ORPHA:570
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Ragged-red muscle fibers, Episodic respiratory distress, Optic atrophy, Hypervent... ORPHA:255210
Cockayne Syndrome
Skeletal muscle atrophy, Optic disc pallor, Severe short stature, Ataxia, Cachexia, Decreased ner... ORPHA:191
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Melas
Ragged-red muscle fibers, Optic atrophy, Myopathy, Pulmonary arterial hypertension, Abnormal mito... ORPHA:550
Congenital Myopathy 13
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Increased int... OMIM:255995
Marden-Walker Syndrome
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Growth delay, Muscular dy... ORPHA:2461
Tbck-Related Intellectual Disability Syndrome
Macroglossia, Inability to walk, Diastasis recti, Skeletal muscle atrophy ORPHA:488632
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Mild postnatal growth retardation, Unsteady gait, Fle... ORPHA:90324
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Abnormality of the tongue muscle, ... ORPHA:273
Immunodeficiency 31C
Skeletal muscle atrophy, Short stature, Weight loss, Growth delay, Delayed puberty OMIM:614162
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Short stature, Cachexia, Rhabdomyosarcoma, Abnormality of neuronal migra... ORPHA:647
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Failure to thrive, Truncal obesity OMIM:222700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Myopathy, Type 1 muscle fiber predominance OMIM:614557
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Small for gestational age, Flexion contracture, Optic atrophy, Camptodac... OMIM:309590
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Optic atrophy, Fatigable weakness of skeletal muscles ORPHA:284339
Duane Retraction Syndrome
Skeletal muscle atrophy, Camptodactyly ORPHA:233
Leprosy
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Steppage gait, Abnormal autono... ORPHA:548
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Short stature, Myopathy, Difficulty walking ORPHA:536545
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Flexion contracture, Elbow f... OMIM:256040
Cystinosis, Nephropathic
Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weight loss OMIM:219800
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Failure to thrive ORPHA:3260
Leprechaunism
Skeletal muscle atrophy, Postnatal growth retardation, Severe intrauterine growth retardation, De... ORPHA:508
Marfan Syndrome
Skeletal muscle atrophy, Slender build, Cachexia ORPHA:558
Atypical Werner Syndrome
Skeletal muscle atrophy, Calf muscle hypertrophy, Decreased body weight, Failure to thrive, Abnor... ORPHA:79474
Stickler Syndrome
Macroglossia, Skeletal muscle atrophy, Slender build, Cachexia ORPHA:828
Choreoacanthocytosis
Peroneal muscle atrophy, Myopathy, Distal amyotrophy, Abnormal autonomic nervous system physiolog... ORPHA:2388
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers OMIM:124000
Pierson Syndrome
Skeletal muscle atrophy OMIM:609049
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Short stature, Flexion contracture, Knee flexio... OMIM:259050
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Pleural effusion, Tendon rupture OMIM:182250

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chrne

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chrne.

No publications found that use IMPC mice or data for Chrne.

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MGI Allele Allele Type Produced
Chrnetm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells

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