Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
X-linked myotubular myopathy gene 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Mtm1 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 Mtm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Centronuclear Myopathy
External ophthalmoplegia, Gait disturbance, Respiratory failure requiring assisted ventilation, A... ORPHA:596
Myopathy, Centronuclear, X-Linked
Neck muscle weakness, External ophthalmoplegia, Flexion contracture, Diaphragmatic eventration, R... OMIM:310400
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Respiratory insufficiency ORPHA:456328

The table below shows human diseases predicted to be associated to Mtm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Distal Nebulin Myopathy
Slender build, EMG: myopathic abnormalities, Exertional dyspnea, Progressive distal muscle weakne... ORPHA:399103
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Muscle fiber hypertrophy, Falls, Skeletal muscle atrophy, Neck flex... ORPHA:178464
Miyoshi Myopathy
Tibialis atrophy, Distal upper limb amyotrophy, Proximal amyotrophy, Difficulty walking, Loss of ... ORPHA:45448
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Inability to walk, Distal upper limb muscle weakness, Quadriceps muscle weakness, Triceps weaknes... ORPHA:482601
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Scapuloperoneal weakness, Centrally nucleated ske... OMIM:608358
Alpha-B Crystallin-Related Late-Onset Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Facial diplegia, Progressive distal muscle we... ORPHA:399058
Neuronopathy, Distal Hereditary Motor, Type Iic
Distal upper limb muscle weakness, Difficulty walking, Lower limb muscle weakness, Distal muscle ... OMIM:613376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Distal upper limb muscle weakness, Peroneal muscle atrophy, Increas... ORPHA:609
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Spinal muscular atrophy, Proximal lower limb amyotrophy, Proximal muscle weakness in lower limbs,... OMIM:158600
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, EMG: myopathic abnormalities, Facial hypotonia, Abnormal respiratory system ph... ORPHA:266
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress, Difficulty walking, Muscular dystrophy, Centrally nucleated skelet... ORPHA:86812
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Gait disturbance, Proximal muscle weakness, Distal m... OMIM:618655
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Gait disturbance, Weakness of th... ORPHA:98912
Distal Anoctaminopathy
Difficulty walking, Rhabdomyolysis, Proximal muscle weakness in upper limbs, Progressive muscle w... ORPHA:399096
Distal Myotilinopathy
EMG: myopathic abnormalities, Progressive distal muscle weakness, Difficulty walking, Loss of abi... ORPHA:98911
Gne Myopathy
Muscle weakness, EMG: myopathic abnormalities, Shoulder girdle muscle atrophy, Scapular winging, ... ORPHA:602
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Myopathy, Scapulohumeroperoneal
Wrist drop, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contrac... OMIM:616852
Distal Myopathy With Anterior Tibial Onset
Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Tibialis muscle weakness, ... ORPHA:178400
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5
Muscle weakness, Spinal muscular atrophy, Gait disturbance, Skeletal muscle atrophy, Foot dorsifl... OMIM:614881
Nemaline Myopathy 5
Proximal amyotrophy, Respiratory insufficiency, Z-band streaming, Type 1 muscle fiber predominanc... OMIM:605355
Myopathy, Distal, 5
Distal amyotrophy, Facial palsy, Rimmed vacuoles, Myopathy, Muscle fiber splitting OMIM:617030
Finnish Upper Limb-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Steppage gait, Progressive distal mu... ORPHA:399086
Distal Myopathy, Welander Type
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, C... ORPHA:603
Scapuloperoneal Myopathy, Myh7-Related
EMG: myopathic abnormalities, Myopathy, Scapuloperoneal myopathy, Weakness of facial musculature OMIM:181430
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness, Distal amyotrophy, Upper l... OMIM:600794
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Muscular dystrophy, Late-onset distal muscle weak... OMIM:608423
Myopathy And Diabetes Mellitus
Inability to walk, Weakness of orbicularis oculi muscle, Respiratory distress, Proximal amyotroph... ORPHA:2596
Tubular Aggregate Myopathy
EMG: myopathic abnormalities, Muscle fiber tubular inclusions, Centrally nucleated skeletal muscl... ORPHA:2593
Duchenne Muscular Dystrophy
Flexion contracture, Respiratory insufficiency, Proximal muscle weakness, Progressive muscle weak... ORPHA:98896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness, Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, ... OMIM:618848
Central Core Disease Of Muscle
Muscle weakness, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fiber... OMIM:117000
Desminopathy
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Supraventricular... ORPHA:98909
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Progressive distal muscle weakness, Cardiomyopathy, Progressive mus... OMIM:609452
Laing Early-Onset Distal Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Gait di... ORPHA:59135
Polyglucosan Body Myopathy 2
Distal muscle weakness, Limb-girdle muscle weakness, Difficulty walking, Skeletal muscle atrophy OMIM:616199
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Proximal lower limb amyotrophy, Proximal upper limb amyotrophy, Facial palsy, G... ORPHA:219
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Proximal amyotrophy, Respiratory insufficiency due to muscle weakne... ORPHA:98902
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Spinal Muscular Atrophy, Distal, X-Linked 3
Distal muscle weakness, Unsteady gait, Distal amyotrophy, Spinal muscular atrophy OMIM:300489
Nonaka Myopathy
EMG: myopathic abnormalities, Deposits immunoreactive to beta-amyloid protein, Gait disturbance, ... OMIM:605820
Charcot-Marie-Tooth Disease, Axonal, Type 2W
Distal muscle weakness, Steppage gait, Gait disturbance, Distal amyotrophy OMIM:616625
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Difficulty walking, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle weakness ... OMIM:601954
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Scapuloperoneal weakness, Centrally nucleated skeletal muscle fiber... OMIM:255160
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness, Distal amyotrophy, Upper l... OMIM:601472
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Respiratory insufficiency due to muscle weakness, Pro... OMIM:255310
Oculopharyngodistal Myopathy
Distal upper limb muscle weakness, Abnormality of masseter muscle, Weight loss, Distal lower limb... ORPHA:98897
Spastic Paraplegia 17, Autosomal Dominant
Lower limb muscle weakness, Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness... OMIM:270685
Spastic Paraplegia 38, Autosomal Dominant
Lower limb muscle weakness, Thenar muscle weakness, Thenar muscle atrophy, Distal muscle weakness... OMIM:612335
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Gait disturbance, Flexion contracture, Death in infancy, Respiratory insufficiency... ORPHA:157973
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Late-onset distal muscle weakne... OMIM:256030
Welander Distal Myopathy
Distal muscle weakness, Steppage gait, Distal amyotrophy, Rimmed vacuoles OMIM:604454
Vacuolar Neuromyopathy
Scapular winging, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Distal muscle w... OMIM:601846
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:618654
Spinal Muscular Atrophy, Infantile, James Type
Muscle weakness, Lower limb muscle weakness, Respiratory insufficiency, Distal muscle weakness, T... OMIM:619042
Bethlem Myopathy 1
Camptodactyly of finger, Congenital muscular torticollis, Respiratory insufficiency due to muscle... OMIM:158810
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Muscle weakness, Spinal muscular atrophy, Respiratory distress, Difficulty walking, Ventilator de... ORPHA:254875
Rigid Spine Syndrome
Neck muscle weakness, Abnormality on pulmonary function testing, Hamstring contractures, Scoliosi... ORPHA:97244
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Proximal muscle weakness, Waddling gait, Muscle fiber cytoplasmatic in... OMIM:609524
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal muscle weakness, Gait disturbance, Skeletal muscle atrophy, Proximal muscle weakness OMIM:616040
Spastic Paraplegia 73, Autosomal Dominant
Difficulty walking, Skeletal muscle atrophy, Proximal muscle weakness OMIM:616282
Muscular Dystrophy, Limb-Girdle, Type 1H
Muscle weakness, Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal... OMIM:613530
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,... OMIM:300717
Myopathy, Centronuclear, 2
EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Centrally nucleated skeletal... OMIM:255200
Myopathy, Spheroid Body
Muscle weakness, Tremor, Proximal amyotrophy, Proximal muscle weakness, Distal muscle weakness, W... OMIM:182920
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Scapular winging, Proximal amyotrophy, Gait disturbance, Back pain, Proximal muscl... OMIM:618129
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Muscle weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness, Unsteady gait, Gowers ... OMIM:612937
Spastic Paraplegia 42, Autosomal Dominant
Muscle weakness, Spastic gait, Skeletal muscle atrophy OMIM:612539
Amyotrophic Lateral Sclerosis Type 4
Distal muscle weakness, Gait disturbance, Skeletal muscle atrophy ORPHA:357043
Scapuloperoneal Myopathy, X-Linked Dominant
Scapular winging, Scapuloperoneal myopathy, Flexion contracture, Lower limb muscle weakness, Prox... OMIM:300695
Nemaline Myopathy 6
Myopathy, Nemaline bodies, Limb muscle weakness OMIM:609273
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Inclusion Body Myositis
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Proximal muscle weakness, Rimmed va... ORPHA:611
Myopathy, Congenital Proximal, With Minicore Lesions
Obstructive sleep apnea, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ty... OMIM:618823
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Difficulty walking, Nocturnal hypoventilation, Quadriceps muscle weakness, Pelv... OMIM:603689
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Right bundle branch block, Exertional dyspnea, Loss of ability to w... ORPHA:254361
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Restrictive ventilatory defect, Arthrogryposis multiplex congenita, Centrally nucleated skeletal ... OMIM:618484
Spastic Paraplegia 62, Autosomal Recessive
Difficulty walking, Spastic gait, Lower limb spasticity, Skeletal muscle atrophy, Babinski sign, ... OMIM:615681
Spastic Paraplegia 43, Autosomal Recessive
Muscle weakness, Gait disturbance, Distal amyotrophy, Knee flexion contracture, Ankle flexion con... OMIM:615043
Myopathy, Myofibrillar, 3
Progressive distal muscle weakness, Achilles tendon contracture, Proximal muscle weakness, Distal... OMIM:609200
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Restrictive ventilatory defect, Abnormal mitochondria in muscle tissue, Respiratory insufficiency... ORPHA:663
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter OMIM:618992
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Respiratory insufficiency, Distal arthrogryposis, Multiple joint contracture... OMIM:614915
Muscular Dystrophy, Congenital, Merosin-Positive
Neck muscle weakness, Congenital muscular dystrophy, Flexion contracture, Respiratory insufficien... OMIM:609456
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Difficulty walking, Skeletal muscle atrophy OMIM:615025
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Proximal muscle weakness, Distal muscle weakness, Waddling gait, Rimmed vacuoles, Skeletal muscle... OMIM:617760
Nemaline Myopathy 4
Neck muscle weakness, Scapular winging, Difficulty walking, Flexion contracture, Type 1 muscle fi... OMIM:609285
Multiminicore Myopathy
Scoliosis, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, External ophthal... ORPHA:598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Muscular dystrophy, Centrally nucleated skeletal muscle fibers,... OMIM:616812
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Ty... OMIM:300580
Myopathy, Centronuclear, 1
EMG: myopathic abnormalities, External ophthalmoplegia, Skeletal muscle hypertrophy, Flexion cont... OMIM:160150
Nemaline Myopathy 7
Neck muscle weakness, Muscle weakness, Gait disturbance, Respiratory insufficiency due to muscle ... OMIM:610687
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal muscle weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:608323
Marinesco-Sjogren Syndrome
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Flexion contracture, Centrally nucleated skeletal ... OMIM:248800
Congenital Myopathy With Myasthenic-Like Onset
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Gait disturbance, Respiratory insuffic... ORPHA:424107
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness, Difficulty walking OMIM:619024
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb musc... OMIM:611225
Autosomal Recessive Spastic Paraplegia Type 62
Difficulty walking, Spastic gait, Lower limb spasticity, Knee flexion contracture, Skeletal muscl... ORPHA:401785
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, External ophthalmoplegia, Increased endomysial connective tissue, D... OMIM:618940
Autosomal Recessive Spastic Paraplegia Type 63
Decreased body weight, Scissor gait, Skeletal muscle atrophy ORPHA:401805
Bethlem Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Reduced muscle collagen VI, Scoliosis, Muscul... ORPHA:610
Minicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Ce... OMIM:255320
Mitochondrial Myopathy With Diabetes
EMG: myopathic abnormalities, Weakness of orbicularis oculi muscle, Proximal amyotrophy, Ataxia, ... OMIM:500002
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Generalized muscle w... OMIM:611705
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Muscle weakness, Distal muscle weakness, Distal amyotrophy, Skeletal muscle atrophy OMIM:614369
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 m... ORPHA:169186
Spinal Muscular Atrophy, Scapuloperoneal
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy OMIM:271220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Lim... OMIM:608099
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Myopathy, X-Linked, With Postural Muscle Atrophy
Scapular winging, Arrhythmia, Scapuloperoneal weakness, Flexion contracture, Respiratory insuffic... OMIM:300696
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Limb-girdle muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Myopathy, Abnorma... OMIM:615424
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Increased variability in muscle fib... ORPHA:171442
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Arthrogryposis multiplex congenita, Multiple joint contractures, Skele... OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Dyspnea, Muscular dystrophy, Flexion contracture, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:603511
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, External ophthalmoplegia, Exertional dyspnea, Gait disturbance, Progressive extern... OMIM:615156
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Exertional dyspnea, Difficulty walking, Gait disturbance, Progressi... ORPHA:352470
Myosclerosis, Autosomal Recessive
Restricted neck movement due to contractures, Decreased pulmonary function, Achilles tendon contr... OMIM:255600
Distal Myopathy, Tateyama Type
Neck muscle weakness, EMG: myopathic abnormalities, Palpitations, Abnormal muscle fiber protein e... ORPHA:488650
Klhl9-Related Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Intrinsic hand muscle atrophy, Progressive distal muscle weakness, ... ORPHA:399081
Childhood-Onset Nemaline Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Waddling ... ORPHA:171439
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Difficulty walking, Distal muscle weakness, Distal amyotrophy, Vocal ... OMIM:158580
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Difficulty walking, Centrally nucleated skeletal muscle fibers, Central core regions in... ORPHA:401768
Myopathy, Distal, 4
Muscle weakness, Proximal muscle weakness, Distal lower limb amyotrophy, Skeletal muscle atrophy,... OMIM:614065
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Myopathy, Proximal, With Ophthalmoplegia
Neck muscle weakness, Scoliosis, Scapular winging, Congenital contracture, Proximal muscle weakne... OMIM:605637
Spastic Paraplegia 63, Autosomal Recessive
Gait disturbance, Scissor gait, Skeletal muscle atrophy OMIM:615686
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Gait disturbance, Proximal muscle weakness in lower limbs, Waddling gait, Myopathy, Increased var... ORPHA:1878
Autosomal Recessive Spastic Paraplegia Type 76
Scoliosis, Gait ataxia, Limb ataxia, Lower limb muscle weakness, Ataxia, Ankle clonus, Lower limb... ORPHA:488594
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal musc... ORPHA:486815
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency, Generalized muscle weakness, Skeletal muscle atr... ORPHA:238329
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Generalized amyotr... OMIM:613561
Neuropathy, Painful
Lower limb muscle weakness, Skeletal muscle atrophy OMIM:256870
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Loss of ability to walk, Skeletal muscle fibrosis, Generalized ... ORPHA:34516
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Proximal muscle weakne... ORPHA:457050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Gait disturbance, Progressive external ophthalmoplegia,... OMIM:609286
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Muscle weakness, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacem... OMIM:613204
Zebra Body Myopathy
Neck muscle weakness, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Proximal musc... ORPHA:97240
Myopathy, Myofibrillar, 8
Neck muscle weakness, Muscle weakness, Restrictive ventilatory defect, Scapular winging, Centrall... OMIM:617258
Neuronopathy, Distal Hereditary Motor, Type I
Distal muscle weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:182960
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Respiratory distress, Sudden episodic apnea, Respiratory insu... OMIM:254210
Myopathy, Centronuclear, 4
Muscle weakness, Centrally nucleated skeletal muscle fibers OMIM:614807
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Pontocerebellar Hypoplasia, Type 1C
Muscle weakness, Spinal muscular atrophy, Flexion contracture, Respiratory insufficiency, Respira... OMIM:616081
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Myopathy, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy OMIM:208100
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Neonatal respiratory distress, Increased intramyocellular lipid droplets, Weakne... OMIM:619062
Spinal Muscular Atrophy, Jokela Type
Muscle weakness, Spinal muscular atrophy, Difficulty walking, Skeletal muscle atrophy, Calf muscl... OMIM:615048
Myopathy, Distal, 1
Neck muscle weakness, Gait disturbance, Proximal muscle weakness, Distal muscle weakness, Type 1 ... OMIM:160500
Myopathy, Tubular Aggregate, 1
External ophthalmoplegia, Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic han... OMIM:160565
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Respiratory... OMIM:617066
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Muscle weakness, Tremor, Flexion contracture, Ataxia, Skeletal muscle atrophy, Babinski sign, Spa... OMIM:611105
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Difficulty walking, Kyphosis, Respiratory insufficiency due to muscle weakness, Proxim... OMIM:617087
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Lower limb muscle weakness, ... OMIM:254130
Nemaline Myopathy 1
Neck muscle weakness, EMG: myopathic abnormalities, Shoulder girdle muscle atrophy, Scoliosis, Fl... OMIM:609284
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Ataxia, Skeletal muscle atrophy OMIM:158500
Myopathy, Myofibrillar, 2
Neck muscle weakness, EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency... OMIM:608810
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Limb muscle weakness, Respiratory insufficiency due ... OMIM:605809
Myopathy With Giant Abnormal Mitochondria
Myopathy, Limb-girdle muscle atrophy, Growth delay, Proximal muscle weakness OMIM:255140
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Respiratory insufficiency due to muscle weakness, Fatigable weakness, Gowers... OMIM:254300
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb muscle weakness, Proximal muscle weakness, Upper limb amyotrophy, Waddling gait, Rimme... OMIM:616924
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased variability in muscle fib... ORPHA:353
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Unsteady gait, Gowers sign, Calf muscle pseudohypertrophy, Waddli... ORPHA:280333
Autosomal Recessive Spastic Paraplegia Type 43
Flexion contracture of finger, Spastic paraparesis, Difficulty walking, Poor fine motor coordinat... ORPHA:320370
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Lethargy, Abnormal respiratory system physiology, Int... ORPHA:324581
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Scapular winging, Frequent falls, Difficulty walking, Muscle fiber tubular inclusions,... ORPHA:353327
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, Thenar muscle atrophy, Unsteady gait, Distal lower limb muscle weakness, ... ORPHA:139536
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle weakness, Distal am... OMIM:607088
Juvenile Amyotrophic Lateral Sclerosis
Scoliosis, Dystonia, Axial dystonia, Hypertonia, Toe walking, Spastic diplegia, Head titubation, ... ORPHA:300605
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Distal muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Upper limb m... OMIM:302801
Nemaline Myopathy 3
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Hypertonia, Late-ons... OMIM:161800
Neuronopathy, Distal Hereditary Motor, Type Iid
Spinal muscular atrophy, Difficulty walking, Weakness of the intrinsic hand muscles, Lower limb m... OMIM:615575
Muscular Dystrophy, Congenital, Producing Arthrogryposis
Congenital muscular dystrophy, Myopathy, Arthrogryposis multiplex congenita OMIM:253900
Rigid Spine Muscular Dystrophy 1
Restrictive ventilatory defect, Type 1 and type 2 muscle fiber minicore regions, Nocturnal hypove... OMIM:602771
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal muscle weakness, Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness OMIM:607731
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Dystonia, Scapular winging, Pelvic girdle muscle atrophy, Gait di... OMIM:167320
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal muscle weakness, Steppage gait, Distal amyotrophy, Upper limb muscle weakness OMIM:607677
Spinocerebellar Ataxia Type 43
Gait ataxia, Distal upper limb muscle weakness, Limb ataxia, Progressive cerebellar ataxia, Unste... ORPHA:497764
Muscular Dystrophy, Congenital, Lmna-Related
Neck muscle weakness, Congenital muscular dystrophy, Flexion contracture, Respiratory insufficien... OMIM:613205
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress, Ataxia, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Muscle weakness, Ataxia, Myoclonus, Myopathy, Ragged-red muscle fibers, Spasticity OMIM:545000
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Respiratory insufficiency due to muscle weakness, Skeletal muscle atrophy, Poo... OMIM:618184
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Failure to thrive OMIM:618246
Autosomal Dominant Centronuclear Myopathy
EMG: myopathic abnormalities, External ophthalmoplegia, Difficulty walking, Centrally nucleated s... ORPHA:169189
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Difficulty walking, Scapuloperoneal amyotrophy, Respiratory insufficienc... OMIM:611067
Spinal Muscular Atrophy, Facioscapulohumeral Type
Spinal muscular atrophy, Skeletal muscle atrophy OMIM:182970
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, EMG: myopathic abnormalities, Tremor, Intrinsic hand muscle atrophy, Gait dist... ORPHA:276435
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, ... OMIM:300718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
EMG: myopathic abnormalities, Gait ataxia, Hypergonadotropic hypogonadism, Rhabdomyolysis, Bradyk... OMIM:157640
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Abnormal muscle fiber morphology, Rimmed vacuoles, Myopathy ORPHA:270
Congenital Muscular Dystrophy, Ullrich Type
Muscle weakness, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Scoliosis, Short... ORPHA:75840
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased muscle mass, Respiratory insufficiency due to muscle weakness... OMIM:603034
Myopathy, Distal, With Anterior Tibial Onset
Myopathy, Distal amyotrophy OMIM:606768
Muscular Dystrophy, Congenital, 1B
Pectoralis amyotrophy, Congenital muscular dystrophy, Achilles tendon contracture, Shoulder girdl... OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Muscle fiber splitting, Increased variability i... OMIM:253601
Spastic Ataxia 9, Autosomal Recessive
Growth delay, Abnormal pyramidal sign, Ataxia, Distal muscle weakness, Distal amyotrophy, Babinsk... OMIM:618438
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Gowers sign, Waddling gait, Nemaline bodies, Facial palsy, Reduced vital capaci... OMIM:617336
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Skeletal muscle atrophy ORPHA:1766
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Distal muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexor weakness, Upper limb m... OMIM:607678
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Restrictive ventilatory defect, Hand muscle weakness, Intrinsic hand muscle at... ORPHA:101077
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Restrictive ventilatory defect, Diaphragmatic paralysis, Resp... OMIM:614399
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Ankle clonus, Spastic gait, Lower limb spasticity... OMIM:610250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mu... OMIM:618138
Pleoconial Myopathy With Salt Craving
Myopathy, Proximal amyotrophy, Paralysis, Proximal muscle weakness OMIM:262900
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Distal muscle weakness, Hand muscle atrophy, Fa... OMIM:607641
Neuronopathy, Distal Hereditary Motor, Type Vc
Difficulty walking, Distal lower limb amyotrophy, Distal lower limb muscle weakness, Thenar muscl... OMIM:619112
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Muscle weakness, Lethargy, Difficulty walking, Contractures of the joints of the lower limbs, Par... OMIM:613710
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Generalized muscle weakness, Ty... ORPHA:178145
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myopathy OMIM:618323
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy OMIM:617046
Autosomal Dominant Spastic Paraplegia Type 4
Leg muscle stiffness, Lower limb muscle weakness, Ataxia, Ankle clonus, Lower limb spasticity, Di... ORPHA:100985
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Gait ataxia, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Failure to thrive ... ORPHA:90103
Neuropathy, Hereditary Motor, With Myopathic Features
EMG: myopathic abnormalities, Scapular winging, Distal upper limb muscle weakness, Flexion contra... OMIM:619216
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
Myopathy, Myofibrillar, 6
Scoliosis, EMG: myopathic abnormalities, Diaphragmatic paralysis, Muscular dystrophy, Respiratory... OMIM:612954
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Weakness of long finger extensor muscles, Progressive muscle ... ORPHA:641
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Generalized muscle weakness, Myopathy, Respiratory insufficiency, Inability to walk OMIM:616321
Bethlem Myopathy 2
Muscle weakness, Scapular winging, Kyphosis, Flexion contracture, Myopathy OMIM:616471
Ocular Myopathy With Curare Sensitivity
Myopathy, Limb muscle weakness OMIM:257600
Myopathy, Distal, 3
EMG: myopathic abnormalities, Muscular dystrophy, Distal muscle weakness, Distal amyotrophy, Late... OMIM:610099
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Muscle weakness, Increased muscle glycogen content, Macroglossia, Respiratory distress, Increased... ORPHA:254864
Autosomal Spastic Paraplegia Type 30
Leg muscle stiffness, Ataxia, Unsteady gait, Spastic gait, Distal amyotrophy, Scissor gait ORPHA:101010
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Macroglossia, Scapular winging, Hypoglycosylation of alpha-dystroglycan, Proximal muscle weakness... ORPHA:352479
Neuronopathy, Distal Hereditary Motor, Type Iib
Difficulty walking, Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe... OMIM:608634
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Congenital foot contraction deformities, Difficulty walking, Flexion contra... ORPHA:363454
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Amyotrophic Lateral Sclerosis 8
Distal muscle weakness, Progressive muscle weakness, Skeletal muscle atrophy, Proximal muscle wea... OMIM:608627
Facial Onset Sensory And Motor Neuronopathy
Muscle weakness, Skeletal muscle atrophy ORPHA:85162
Mitochondrial Myopathy, Infantile, Transient
Neck muscle weakness, Increased muscle glycogen content, Muscle weakness, Macroglossia, Increased... OMIM:500009
Cap Myopathy
Abnormal muscle fiber morphology, Fatiguable weakness of proximal limb muscles, Sinus tachycardia... ORPHA:171881
Spinal Muscular Atrophy With Microcephaly And Mental Subnormality
Proximal spinal muscular atrophy OMIM:271110
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased intramyocellular lipid droplets, Failure to thrive in infancy, Ataxia, Increa... OMIM:619065
Riboflavin Transporter Deficiency
Muscle weakness, Tremor, Sleep apnea, Limb muscle weakness, Ataxia, Respiratory insufficiency, Fa... ORPHA:97229
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Inability to walk, Scapular winging, Dilated cardiomyopathy, Fatigable weakness of skeletal muscl... ORPHA:206559
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Muscle weakness, Myopathy, Respiratory insufficiency OMIM:616314
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Difficulty walking, Cardiomyopathy, Pelvic girdle muscle weakness, Gowers sign, Waddling gait, Ca... ORPHA:119
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Scoliosis, Respiratory insufficiency, Proximal muscle weakness, Myopathy, Fatty replacement of sk... OMIM:255100
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Fatigable weakness, Proximal muscle weakness OMIM:614750
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Postsynaptic Congenital Myasthenic Syndromes
EMG: myopathic abnormalities, Exertional dyspnea, Weakness of the intrinsic hand muscles, Triceps... ORPHA:98913
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis, Myopathy, Facial palsy, Short stature OMIM:253320
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Proximal muscle weakness OMIM:182980
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Nemaline Myopathy 10
Muscle weakness, Arthrogryposis multiplex congenita, Flexion contracture, Respiratory insufficien... OMIM:616165
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Gait ataxia, Limb ataxia, Mitral regurgitation, Respiratory insuffi... OMIM:258450
Neutral Lipid Storage Disease With Myopathy
Neck muscle weakness, Increased muscle lipid content, Difficulty walking, Proximal muscle weaknes... OMIM:610717
Spinocerebellar Ataxia 43
Limb ataxia, Distal amyotrophy, Ataxia, Gait ataxia OMIM:617018
Congenital Multicore Myopathy With External Ophthalmoplegia
External ophthalmoplegia, Abnormal respiratory system physiology, Muscular dystrophy, Pneumonia, ... ORPHA:98905
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Re... ORPHA:1145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Restrictive ventilato... OMIM:606612
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 6
Muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness, Skel... OMIM:300816
Striatonigral Degeneration, Infantile, Mitochondrial
Difficulty walking, Ragged-red muscle fibers OMIM:500003
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Scoliosis, Lethargy, External ophthalmoplegia, Flexion contracture, Progressive external ophthalm... OMIM:201470
Myasthenic Syndrome, Congenital, 12
Neck muscle weakness, Proximal amyotrophy, Fatigable weakness, Gowers sign, Facial palsy, Waddlin... OMIM:610542
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Scapular winging, Dyspnea, Distal upper limb muscle weakness, Difficulty walking, Gait imbalance,... ORPHA:435387
Gemignani Syndrome
Ataxia, Hemiplegia/hemiparesis, Delayed puberty, Short stature, Skeletal muscle atrophy ORPHA:2074
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging, Flexion contracture, Fatigable weakness, Gowers sign,... OMIM:616228
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Respiratory insufficiency, Proximal muscle weakness... OMIM:253300
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
B4Galt1-Cdg
Myopathy ORPHA:79332
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Scapular winging, Spinal muscular atrophy, Toe walking, Achilles tendon contractur... OMIM:615290
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Respirat... OMIM:615368
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Muscle weakness, Increased muscle glycogen content, Exertional dyspnea, Rhabdomyolysis, Tachycard... ORPHA:368
Congenital Muscular Dystrophy Without Intellectual Disability
EMG: myopathic abnormalities, Proximal amyotrophy, Difficulty walking, Congenital muscular dystro... ORPHA:370980
Hereditary Motor And Sensory Neuropathy V
Difficulty walking, Hypertonia, Abnormal pyramidal sign, Distal muscle weakness, Distal amyotroph... OMIM:600361
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98853
Myopathy, Congenital, With Tremor
Scoliosis, EMG: myopathic abnormalities, Postural tremor, Scapular winging, Flexion contracture, ... OMIM:618524
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Gait disturbance, Proximal muscle weakness, Distal muscle weakness, Hand muscle atrop... ORPHA:99944
Typical Nemaline Myopathy
Scoliosis, Arthrogryposis multiplex congenita, Respiratory insufficiency, Waddling gait, Short ne... ORPHA:171436
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Truncal ataxia, Difficulty walking, Chorea, Muscular dystrophy, Limb-girdle muscul... ORPHA:369840
Nemaline Myopathy 8
Muscle weakness, Flexion contracture, Death in infancy, Facial palsy, Nemaline bodies, Respirator... OMIM:615348
Motor Neuropathy, Peripheral, With Dysautonomia
Progressive muscle weakness, Orthostatic hypotension, Skeletal muscle atrophy OMIM:252320
Congenital Disorder Of Glycosylation, Type Iid
Myopathy OMIM:607091
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Progressive muscle weakness, Generalized limb muscle atrophy, Failure to thrive OMIM:600462
Short Chain Acyl-Coa Dehydrogenase Deficiency
Dystonia, Lethargy, Respiratory distress, Hypertonia, Failure to thrive, Intrauterine growth reta... ORPHA:26792
Mitochondrial Dna Depletion Syndrome 18
Proximal muscle weakness, Distal muscle weakness, Hand muscle atrophy, Distal amyotrophy, Falls, ... OMIM:618811
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Restrictive ventilatory defect, Scapular winging, External ophtha... OMIM:158900
Brown-Vialetto-Van Laere Syndrome 1
Neck muscle weakness, Scoliosis, Dyspnea, External ophthalmoplegia, Respiratory distress, Clumsin... OMIM:211530
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Inability to walk, EMG: myopathic abnormalities, Loss of ability to walk in early childhood, Resp... OMIM:609560
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal amyotrophy, Difficulty walking, Muscular dystrophy, Proximal muscle we... OMIM:601287
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Distal lower limb muscle weakness, Paresis of extensor muscles of the big... OMIM:158590
Scapuloperoneal Spinal Muscular Atrophy
Scoliosis, Hyperlordosis, Scapular winging, Scapular muscle atrophy, Peroneal muscle atrophy, Pro... OMIM:181405
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Muscle weakness, Macroglossia, Scapular winging, Limb-girdle muscular dystrophy, Hypoglycosylatio... OMIM:616052
Bronchopulmonary Dysplasia
Wheezing, Diaphragmatic paralysis, Right ventricular failure, Abnormal respiratory system physiol... ORPHA:70589
Juvenile Primary Lateral Sclerosis
Muscle weakness, Spastic gait, Gait imbalance, Skeletal muscle atrophy ORPHA:247604
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture, Resp... OMIM:301830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Progressive external ophthalmoplegia, Generalized muscle weakness, ... OMIM:609283
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Inability to walk, Dystonia, Ataxia, Failure to thrive, Skeletal muscle atrophy OMIM:618276
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Slender build, Congenital muscular dystrophy, Flexion contracture, Re... OMIM:254090
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency, Proximal muscle w... OMIM:612999
Roussy-Lévy Syndrome
Scoliosis, Postural tremor, Gait ataxia, Intrinsic hand muscle atrophy, Clumsiness, Difficulty wa... ORPHA:3115
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Myopathy, Skeletal muscle atrophy ORPHA:2597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Ataxia, Progressive muscle weakness, Ragged-red muscle fibers, Hy... OMIM:607426
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness, Skeletal muscle atrophy OMIM:613287
Triosephosphate Isomerase Deficiency
Muscle weakness, Dystonia, Tremor, Kyphosis, Respiratory insufficiency due to muscle weakness, Un... OMIM:615512
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Scoliosis, Restrictive ventilatory defect, Truncal ataxia, Difficulty walking, Chorea, Limb-girdl... ORPHA:369847
Intermediate Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Difficulty walking, Flexion con... ORPHA:171433
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Steppage gait, Distal lower limb amyotrophy, Upper limb amyotrophy, Lower limb muscle weakness ORPHA:99940
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Muscular dystrophy, Pelvic girdle muscle weakness, Proximal muscle weakne... ORPHA:34515
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Myopathy, Low-output congestive heart failure, Hypertrop... ORPHA:91130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Muscle weakness, Muscular dystrophy, Flexion contracture, Increased endomysial connective tissue,... OMIM:617072
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Toe walking, Waddling ga... ORPHA:98855
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, D... ORPHA:267
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia, Proximal muscle weakness OMIM:551500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Toe walking, Proximal muscle weakness in upper limbs, Lower limb spasticity, Upper limb amyotroph... ORPHA:496689
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal muscle weakness, Steppage gait, Distal amyotrophy, Cardiomyopathy OMIM:610100
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Distal muscle weakness, Skeletal muscle at... ORPHA:101078
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Scoliosis, Spinal muscular atrophy, Spastic ataxia, Spastic tetraparesis, Distal amyotrophy, Prog... ORPHA:496756
Neuronopathy, Distal Hereditary Motor, Type Vb
Distal muscle weakness, Distal amyotrophy OMIM:614751
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal muscle weakness, Distal amyotrophy OMIM:608673
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Muscle weakness, Obesity, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Rett Syndrome
Scoliosis, Apnea, Dystonia, Gait ataxia, Truncal ataxia, Kyphosis, Gait apraxia, Intermittent hyp... OMIM:312750
Adult-Onset Distal Myopathy Due To Vcp Mutation
EMG: myopathic abnormalities, Tremor, Scapular winging, Intrinsic hand muscle atrophy, Difficulty... ORPHA:329478
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy ORPHA:2579
Spinal Muscular Atrophy With Mental Retardation
Spinal muscular atrophy OMIM:271109
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Proximal muscle weakness, Distal muscle weakness, Progressive external ophthalmoplegia, Skeletal ... OMIM:617070
Duane Anomaly-Myopathy-Scoliosis Syndrome
Scoliosis, Myopathy, Proportionate short stature ORPHA:50817
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Distal muscle weakness, Gait disturbance, Distal amyotrophy, Foot dorsiflexor weakness OMIM:618400
Central Core Disease
Central core regions in muscle fibers, Respiratory insufficiency due to muscle weakness, Pelvic g... ORPHA:597
Infantile Refsum Disease
Arrhythmia, Ataxia, Progressive muscle weakness, Facial palsy, Failure to thrive, Cardiomyopathy ORPHA:772
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal muscle weakness, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor ... OMIM:118210
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen... ORPHA:324604
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Scoliosis, Tremor, Spinal muscular atrophy, Difficulty walking, Progressive distal muscular atrop... OMIM:159950
Charcot-Marie-Tooth Disease Type 1A
Gait disturbance, Distal muscle weakness, Skeletal muscle atrophy, Calf muscle hypertrophy, Diaph... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Flexion contracture, Distal muscle weakness, Facial palsy, Nemaline bodies, Distal amyotrophy, Hy... OMIM:607684
Congenital Fiber-Type Disproportion Myopathy
Pelvic girdle muscle weakness, Weight loss, Generalized muscle weakness, Shoulder girdle muscle w... ORPHA:2020
Spinal Muscular Atrophy, Type Iii
Muscle weakness, Spinal muscular atrophy, Skeletal muscle atrophy, Proximal muscle weakness OMIM:253400
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, External ophthalmoplegia, Weight loss, Autophagic vacuoles, Increas... OMIM:164310
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Dyspnea, Respiratory insufficiency, Nemaline bodies, Limb muscle wea... OMIM:606842
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Dysmetria, Skeletal muscle atrophy, Limb muscle weak... OMIM:607458
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Arrhythm... OMIM:181350
Spastic Paraplegia 64, Autosomal Recessive
Gait disturbance, Skeletal muscle atrophy OMIM:615683
Glycogen Storage Disease Ixb
Muscle weakness, Increased muscle glycogen content OMIM:261750
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal muscle weakness, Distal amyotrophy, Respiratory insufficiency, Upper limb muscle weakness OMIM:605253
Gaucher Disease Type 2
Dystonia, Respiratory distress, Cough, Flexion contracture, Ophthalmoplegia, Cardiac arrest, Abno... ORPHA:77260
Anal Sphincter Myopathy, Internal
Myopathy OMIM:105565
Perching Syndrome
Camptodactyly, Flexion contracture, Respiratory distress OMIM:617055
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle weakness, Hand muscle atrophy, Ankle weakness, Distal amyotrophy, Spastic gait, Abnor... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal muscle weakness, Distal amyotrophy OMIM:605589
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Flexion contracture, Proximal muscle weakness, Generalized muscle weakness, G... OMIM:613723
Spastic Paraplegia 76, Autosomal Recessive
Scoliosis, Spastic paraplegia, Gait ataxia, Difficulty walking, Lower limb muscle weakness, Ataxi... OMIM:616907
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Scoliosis, Hand muscle weakness, Sleep apnea, Exertional dyspnea, Respirato... ORPHA:98915
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Decreased muscle mass, Respiratory insufficiency due to muscl... OMIM:608931
Microcephaly, Seizures, And Developmental Delay
Ataxia, Skeletal muscle atrophy, Hyperactivity OMIM:613402
Muscular Dystrophy, Congenital, Megaconial Type
Muscle weakness, Congenital muscular dystrophy, Muscular dystrophy, Gowers sign, Waddling gait, F... OMIM:602541
Myopathy, X-Linked, With Excessive Autophagy
Scoliosis, Flexion contracture, Respiratory insufficiency, Proximal muscle weakness in lower limb... OMIM:310440
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Dpm3-Cdg
Muscle weakness, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated card... ORPHA:263494
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Gait ataxia, Dyspnea, Paralysis, Progressive cerebellar ataxia, Distal amyotrophy, Dysmetria, Lim... OMIM:606183
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Tremor, Gait disturbance, Kyphosis, Ataxia, Distal lower limb amyotrophy, Distal upper... ORPHA:101075
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Inability to walk, EMG: myopathic abnormalities, Gait disturbance, Lower limb muscle weakness, Pr... ORPHA:99939
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Arthrogryposis multiplex congenita, Decreased muscle mass,... ORPHA:85278
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Exertional dyspnea, Ataxia, Proximal muscle weakness, Fatigable weakness, Distal arthro... ORPHA:42
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
EMG: myopathic abnormalities, Muscular dystrophy, Proximal muscle weakness, Distal muscle weaknes... OMIM:608807
Myopathy, Myofibrillar, 7
Muscle weakness, Type 2 muscle fiber predominance, Difficulty walking, Flexion contracture, Incre... OMIM:617114
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Ragged-red muscle fibers, Congestive heart failure, Respiratory failure OMIM:616794
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscle weakness, Congenital muscular dystrophy, Increased endomysial connective tissue, Flexion c... OMIM:607855
Ullrich Congenital Muscular Dystrophy 2
Congenital muscular dystrophy, Flexion contracture, Facial palsy, Nocturnal hypoventilation, Incr... OMIM:616470
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Muscle weakness, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture... OMIM:616867
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Proximal muscle weakness, Distal muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsifle... OMIM:605588
Autosomal Recessive Progressive External Ophthalmoplegia
Cogwheel rigidity, Hand muscle weakness, Scapular winging, External ophthalmoplegia, Parkinsonism... ORPHA:254886
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Distal muscle weakness, Distal amyotrophy, Myoclonus, Babi... OMIM:607317
Creatine Phosphokinase, Elevated Serum
EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Muscular dystrophy, Inflammatory ... OMIM:123320
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Spastic gait, Ataxia, Congenital diaphragmatic hernia ORPHA:972
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscle weakness, Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, ... OMIM:616827
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Muscle weakness, Oligomenorrhea, Irregular menstruation, Rhabdomyolysis, Progressive muscle weakn... ORPHA:370
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Gait ataxia, Ataxia, Distal muscle weakness, Distal amyotrophy, Dysmetria, Steppage gait, Foot do... OMIM:618387
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Progressive cerebellar ataxia, Generalized amyotrophy ORPHA:2589
Spinal Muscular Atrophy, Type Ii
Muscle weakness, Spinal muscular atrophy, Skeletal muscle atrophy OMIM:253550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Gowers sign, Lim... OMIM:613818
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakness, Shoulder girdle ... OMIM:611307
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Distal muscle weakness, Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness OMIM:606483
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Muscle weakness, External ophthalmoplegia, Ataxia, Progressive external ophthalmoplegia, Respirat... OMIM:616479
Arts Syndrome
Growth delay, Death in infancy, Ataxia, Progressive muscle weakness, Tetraplegia OMIM:301835
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion co... ORPHA:178148
Spinal Muscular Atrophy, Type Iv
Proximal amyotrophy, Spinal muscular atrophy, Proximal muscle weakness OMIM:271150
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy OMIM:225740
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Scoliosis, Spinal muscular atrophy, Ataxia, Distal amyotrophy, Spastic tetraplegia, Foot dorsifle... OMIM:617207
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Fatigable weakness of respiratory muscles, Limb dysmetria, Gait imbalance, Loss of ability to wal... ORPHA:329336
Mitochondrial Complex I Deficiency, Nuclear Type 15
Dystonia, Kyphosis, Flexion contracture, Spastic tetraplegia, Failure to thrive, Intrauterine gro... OMIM:618237
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber... OMIM:616816
Mitochondrial Complex I Deficiency, Nuclear Type 21
Difficulty walking, Growth delay, Ataxia, Babinski sign, Myopathy, Spasticity OMIM:618242
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower limb muscl... ORPHA:365
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Ataxia, Generalized muscle weakness, Progressive external ophthalmopl... OMIM:613662
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Kearns-Sayre Syndrome
Ataxia, Progressive external ophthalmoplegia, Third degree atrioventricular block, Skeletal muscl... ORPHA:480
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Scapular winging, Proximal muscle weakness, Progressive external ophthalmoplegia, Facial palsy, S... OMIM:617069
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Recurrent coughing spasms, Distal muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsifl... OMIM:607736
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Gait disturbance, Ataxia, Ophthalmoplegia, Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Cardiomyopathy, Proximal muscle weakness, Distal muscle weakness, G... ORPHA:52430
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Congenital finger flexion contractures, Congenital muscular torticollis, F... ORPHA:536516
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Respiratory distress, Parkinsonism with favorable response to dopaminergic medi... ORPHA:240085
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Flexion contracture, Lower limb muscle weakness, Respiratory insufficiency ... ORPHA:1143
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Scoliosis, Tremor, Hypertonia, Flexion contracture, Distal muscle weakness, Distal amyotrophy, Ba... OMIM:609260
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Muscle weakness, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Poor head control ORPHA:300179
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Kyphosis, Respiratory insufficiency due to muscle weakness, Progressive external ophthal... ORPHA:352447
Charcot-Marie-Tooth Disease And Deafness
Distal muscle weakness, Distal amyotrophy, Steppage gait, Limb muscle weakness, Foot dorsiflexor ... OMIM:118300
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Myopathy, Flexion contracture, Facial palsy, Skeletal muscle atrophy OMIM:616313
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Myopathy, Failure to thrive, Kyphosis OMIM:618234
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Scoliosis, Paraparesis, Distal muscle weakness, Distal amyotrophy, Steppage gait, Foot dorsiflexo... OMIM:302802
Autosomal Recessive Spastic Paraplegia Type 74
Difficulty walking, Distal lower limb muscle weakness, Distal amyotrophy ORPHA:468661
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal muscle weakness, Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness OMIM:606595
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Neck muscle weakness, Arthrogryposis multiplex congenita, Respiratory insufficiency due to muscle... OMIM:608930
Mitochondrial Complex I Deficiency, Nuclear Type 23
Dystonia, Skeletal muscle atrophy OMIM:618244
Paroxysmal Non-Kinesigenic Dyskinesia
Dystonia, Choreoathetosis, Dyspnea, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Genera... ORPHA:98810
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Decreased cervical spine flexion due to... OMIM:310300
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Muscle weakness, Macroglossia, Skeletal muscle hypertrophy, Gait disturbance, Short stature, Myop... ORPHA:2349
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal muscle weakness, Distal amyotrophy, Upper limb muscle weakness OMIM:607791
Pontocerebellar Hypoplasia, Type 1A
Muscle weakness, Spinal muscular atrophy, Congenital contracture, Ataxia, Respiratory insufficiency OMIM:607596
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Arthrogryposis multiplex congenita, Spasticity, Proximal muscle weakness, Distal m... OMIM:162370
Nathalie Syndrome
Abnormal EKG, Skeletal muscle atrophy OMIM:255990
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Gait ataxia, External ophthalmoplegia, Weight loss, Cachexia, Failure to thrive OMIM:612075
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Progressive external ophthalmoplegia, Progressive muscle weakness, Facial palsy, Fail... OMIM:610131
Isolated Glycerol Kinase Deficiency
Scoliosis, Myopathy, Hyperlordosis, Short stature ORPHA:408
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Macroglossia, Restrictive ventilatory defect, Frequent falls, Difficult... OMIM:607155
Congenital Arthrogryposis With Anterior Horn Cell Disease
Inability to walk, Scoliosis, Dystonia, Arthrogryposis multiplex congenita, Short neck, Difficult... OMIM:611890
Pure Mitochondrial Myopathy
Scoliosis, Fatigable weakness of swallowing muscles, Scapular winging, Fatigable weakness of bulb... ORPHA:254854
Mitochondrial Myopathy And Sideroblastic Anemia
Scoliosis, Kyphosis, Delayed puberty, Myopathy, Generalized limb muscle atrophy ORPHA:2598
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Gowers sign, ... OMIM:253700
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Generalized amyotrophy, Bab... ORPHA:401820
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Distal muscle weakness, Distal amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:605726
Hyperkalemic Periodic Paralysis
Skeletal muscle hypertrophy, Gait disturbance, Flexion contracture, Episodic flaccid weakness, De... ORPHA:682
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Muscle weakness, Dyspnea, Gait disturbance, Ataxia, Progressive external ophthalmoplegia, Hyperte... ORPHA:1349
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Neck muscle weakness, Proximal amyotrophy, Muscular dystrophy, Proximal muscle weakness OMIM:612998
Mitochondrial Complex I Deficiency, Nuclear Type 17
Scoliosis, Dystonia, Gait disturbance, Ataxia, Skeletal muscle atrophy, Rigidity OMIM:618239
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Respiratory distress, Flexion contracture, Short stature, Kyphoscoliosis OMIM:618006
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Isolated Succinate-Coq Reductase Deficiency
External ophthalmoplegia, Proportionate short stature, Lower limb hypertonia, Weight loss, Genera... ORPHA:3208
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Neonatal death, Small for gestational age, Progressive proximal muscle weakness OMIM:300076
Mcdonough Syndrome
Scoliosis, Kyphosis, Cachexia, Short stature, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:2471
Presynaptic Congenital Myasthenic Syndromes
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walki... ORPHA:98914
Congenital Myasthenic Syndrome
Neck muscle weakness, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Toe walki... ORPHA:590
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Dystonia, Kyphosis, Slurred speech, Anterior beaking of lumbar vertebra... OMIM:230650
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
X-Linked Centronuclear Myopathy
External ophthalmoplegia, Gait disturbance, Respiratory failure requiring assisted ventilation, A... ORPHA:596
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Ataxia, Cachexia, Skeletal muscle atrophy ORPHA:2047
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Generalized muscle weakness, Fatigable weakness, Type 2 muscle fiber atrophy, Ophthalmoplegia, In... OMIM:601462
Ataxia-Telangiectasia-Like Disorder 2
Muscle weakness, Conjunctival telangiectasia, Flexion contracture, Ataxia, Unsteady gait, Progres... OMIM:615919
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Parkinsonism, Cachexia, Dysmetria, Babinski sign OMIM:618093
Charcot-Marie-Tooth Disease, Type 4B1
Distal muscle weakness, Facial palsy, Distal amyotrophy, Proximal muscle weakness OMIM:601382
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Fatigable weakness of skeletal muscles, Skeletal muscle hypertrophy, Loss of ability t... ORPHA:370968
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Ataxia, Ankle clonus, Spastic gait, Lower limb sp... OMIM:610357
Charcot-Marie-Tooth Disease Type 4D
Inability to walk, Postural tremor, Distal upper limb muscle weakness, Proximal muscle weakness, ... ORPHA:99950
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscle weakness, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insuffi... OMIM:615352
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Akinesia, Nemaline bodies, Respiratory failure, Increased var... OMIM:619334
Extensor Tendons Of Finger Anomalies
Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Spastic Paraplegia 20, Autosomal Recessive
Spastic paraplegia, Spastic paraparesis, Difficulty walking, Upper limb spasticity, Camptodactyly... OMIM:275900
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Aspiration, Distal upper limb amyotrophy, Difficulty walk... ORPHA:600
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal muscle weakness, Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness OMIM:600882
Duchenne And Becker Muscular Dystrophy
Scoliosis, Hyperlordosis, Gait disturbance, Skeletal muscle atrophy, Myopathy ORPHA:262
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Scoliosis, Vocal cord paresis, Difficulty walking, Skeletal muscle atrophy, Limb muscle weakness OMIM:614895
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Oligomenorrhea, Irregular menstruation, Progressive muscle weakness, Increased body weight, Incre... ORPHA:264580
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Spastic paraparesis, Flexion contracture, Lower limb muscle weakness, Spastic... OMIM:312920
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Kyphoscoliosis, Spinal muscular atrophy, Proximal amyotrophy OMIM:271200
X-Linked Charcot-Marie-Tooth Disease Type 5
Muscle weakness, Scoliosis, Tremor, Skeletal muscle hypertrophy, Gait disturbance, Kyphosis, Para... ORPHA:99014
Brown-Vialetto-Van Laere Syndrome 2
Neck muscle weakness, Scoliosis, Clumsiness, Limb muscle weakness, Ataxia, Respiratory insufficie... OMIM:614707
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Fatigable weakness of respiratory muscles, Increased intramyoce... ORPHA:681
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Dyspnea, Fatiguable weakness of proximal limb muscles, Cough, Respiratory fail... ORPHA:90117
Neutral Lipid Storage Myopathy
Neck muscle weakness, Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intra... ORPHA:98908
Pelizaeus-Merzbacher Disease
Scoliosis, Dystonia, Gait disturbance, Kyphosis, Ataxia, Respiratory insufficiency, Failure to th... ORPHA:702
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Decreased muscle mass, Arrhythmia, Right bundle branc... ORPHA:263297
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Axial dystonia, External ophthalmoplegia, Flexion contracture, Respiratory failure requiring assi... OMIM:619026
Proximal Spinal Muscular Atrophy
Distal upper limb muscle weakness, Triceps weakness, Skeletal muscle atrophy, Elbow flexion contr... ORPHA:70
Neuropathy, Congenital Hypomyelinating, 3
Dystonia, Arthrogryposis multiplex congenita, Flexion contracture, Spasticity, Respiratory insuff... OMIM:618186
Coenzyme Q10 Deficiency, Primary, 8
Muscle weakness, Respiratory distress, Flexion contracture, Hypertension, Small for gestational a... OMIM:616733
Autosomal Recessive Spastic Paraplegia Type 26
Muscle weakness, Scoliosis, Dystonia, Pseudobulbar paralysis, Gait disturbance, Lower limb spasti... ORPHA:101006
Lethal Congenital Contracture Syndrome 7
Arthrogryposis multiplex congenita, Paralysis, Knee flexion contracture, Skeletal muscle atrophy,... OMIM:616286
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Apraxia, Chorea, Hypertonia, Central apnea, Ataxia, Hemiparesis, Paralysis, M... ORPHA:71277
Autosomal Dominant Spastic Paraplegia Type 3
Gait disturbance, Growth delay, Toe walking, Lower limb hypertonia, Bradykinesia, Ankle clonus, S... ORPHA:100984
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Postural tremor, Hand muscle weakness, Hand tremor, Flexion contracture, Paresis of ex... ORPHA:99947
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Neck muscle weakness, Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, P... OMIM:614302
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 1 muscle fiber atrophy, Type 2 muscle fiber atrophy, Facial palsy, Generalized amyotrophy, D... OMIM:617519
Epilepsy, Progressive Myoclonic, 9
Scoliosis, Myoclonus, Gait ataxia, Generalized amyotrophy OMIM:616540
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal muscle weakness, Scoliosis, Difficulty walking, Paralysis OMIM:605285
Primary Dystonia, Dyt4 Type
Dysdiadochokinesis, Respiratory distress, Gait disturbance, Blepharospasm, Laryngeal dystonia, To... ORPHA:98805
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Failure to thrive, Skeletal muscle atrophy OMIM:618251
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Muscle weakness, Dystonia, Increased intramyocellular lipid droplets, Flexion contracture, Ataxia... OMIM:252011
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
EMG: myopathic abnormalities, Progressive distal muscle weakness, Lower limb muscle weakness, Pro... ORPHA:397744
Kennedy Disease
Erectile dysfunction, Gait disturbance, Testicular atrophy, Skeletal muscle atrophy, Decreased fe... ORPHA:481
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Scoliosis, Facial hypotonia, Hypertonia, Failure to thrive in infancy, Cachexi... OMIM:616801
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal muscle weakness, Gait disturbance, Distal amyotrophy OMIM:311070
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dyspnea, Proximal amyotrophy, Hypergonadotropic hypogonadism, Respiratory insufficien... OMIM:615084
Oliver-Mcfarlane Syndrome
Distal muscle weakness, Distal amyotrophy, Small for gestational age, Hypogonadotropic hypogonadism OMIM:275400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Short stature, Ataxia, Skeletal muscle atrophy ORPHA:1933
Sengers Syndrome
Muscle weakness, Myopathy, Respiratory insufficiency, Growth delay OMIM:212350
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Skeletal muscle atrophy OMIM:256720
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Scoliosis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cere... ORPHA:1175
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, Myoclonus, Babinski sign, Choreoat... OMIM:606777
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)