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Gene: Afg3l2 MGI:1916847

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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:
AFG3-like AAA ATPase 2
Synonyms:
par,  Emv66,  2310036I02Rik

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 Afg3l2 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 Afg3l2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinocerebellar Ataxia 28
Ophthalmoparesis, Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red m... OMIM:610246
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Spastic dysarthria, Distal amyotrophy, Lower limb muscle weaknes... ORPHA:313772
Spinocerebellar Ataxia Type 28
Ophthalmoparesis, Spasticity, Head tremor, Limb ataxia, Gait ataxia, Limb dystonia, Rigidity, Dys... ORPHA:101109
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Distal amyotrophy, Spastic paraparesis, Lower limb muscle weakness, Myoclonus, Dysmet... OMIM:614487
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977

The table below shows human diseases predicted to be associated to Afg3l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Tongue fasciculations, Increased variability in muscl... OMIM:271150
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Distal sensory impairment, Proximal muscle weakness, Decreased numbe... OMIM:604484
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Amyotrophic Lateral Sclerosis 8
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... OMIM:608627
Charcot-Marie-Tooth Disease Type 2B1
Proximal muscle weakness in lower limbs, Distal sensory impairment, Proximal muscle weakness, Han... ORPHA:98856
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Abnormal pyramidal s... ORPHA:247604
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... DECIPHER:29
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Progressive extrapyramidal movement disorder, Involun... ORPHA:401768
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Cerebellar atrophy, Hand tremor, Hand muscle weakness,... OMIM:302800
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Progressive distal muscle weakness, Distal sensor... ORPHA:399086
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Spasticity, Inc... OMIM:613954
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Progressive cerebellar ataxia, Somatic sensory dysfunction, Fasciculations, Limb ataxia, Gait ata... ORPHA:95434
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Distal Myopathy With Anterior Tibial Onset
Finger flexor weakness, Intrinsic hand muscle atrophy, Weakness of the intrinsic hand muscles, Li... ORPHA:178400
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal lower limb a... OMIM:605285
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Amish Nemaline Myopathy
Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal... ORPHA:98902
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... OMIM:158600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:620402
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Neck muscle weakness, Limb muscle weakness, Ragged-red musc... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... ORPHA:99947
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Distal sensory impairment, Fiber type grouping, Distal muscle weakness OMIM:614369
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Distal amyotrophy, Decreased motor nerve conduction velocity, Fasciculations, Foot dorsiflexor we... OMIM:614436
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Plantar flexion contracture, Foot dors... OMIM:620011
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Failure to thrive, Denervation of the diaphragm, Camptodactyly of finger, Decr... OMIM:604320
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... OMIM:167320
Spinal Muscular Atrophy, Type Iii
Tongue fasciculations, Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakn... OMIM:253400
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Progressive distal mu... ORPHA:399103
Spinocerebellar Ataxia, Autosomal Recessive 2
Cerebellar vermis atrophy, Dilated fourth ventricle, Limb ataxia, Gait ataxia, Dysmetria, Tremor,... OMIM:213200
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, Progressive distal muscle weakness, EMG: myopathic abnormalities, Progress... OMIM:609452
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Abnormal exteroceptive sensation, Proximal muscle weak... OMIM:205100
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... OMIM:606482
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Vocal cord pare... OMIM:607706
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Bulbar p... OMIM:105500
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... OMIM:601596
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor ... ORPHA:275872
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Peripheral axonal neuropathy, Ataxia,... OMIM:611105
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... ORPHA:2596
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Distal amyotrophy, Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal ... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Basal l... OMIM:214400
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... OMIM:602099
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Spasticity, Sensory axonal neuropathy, Upper limb muscle... ORPHA:309169
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle weakness, Fr... OMIM:614807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Muscular dystrophy, Scapular muscle atrophy, Gowers sign, Proximal muscle weakness, Peroneal musc... OMIM:611588
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Ankle weakness, Foot dorsiflexor w... ORPHA:98912
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ... ORPHA:59135
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Abnormal peripheral nervous system synaptic transmission, T... ORPHA:353327
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
Oculopharyngodistal Myopathy
Vocal cord paresis, Paraplegia, Weight loss, Tibialis muscle weakness, Abnormality of masseter mu... ORPHA:98897
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Distal muscle weak... OMIM:158590
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Gliosis, Neuronal loss in central nervous system OMIM:143100
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Distal sensory impairment, Paralysis, Lower-limb joint contracture, Dist... OMIM:613710
Amyotrophic Lateral Sclerosis 27, Juvenile
Tongue fasciculations, Lower limb muscle weakness, Angulated muscle fibers, Generalized muscle we... OMIM:620285
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:620235
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... OMIM:160150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... OMIM:616437
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of muscles of respirati... ORPHA:52430
Monomelic Amyotrophy
Muscle weakness, Fasciculations, Distal upper limb amyotrophy, Abnormality of peripheral nerve co... ORPHA:65684
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, P... OMIM:613530
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Cerebellar atrophy, Somatic sensory dysfunction, Impaired vibration se... ORPHA:99013
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegi... OMIM:611890
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Tongue fasciculations, Z-band stre... OMIM:618823
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral cortical atrophy, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic ataxia, Gait ... OMIM:618369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Increased varia... OMIM:618138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
External ophthalmoplegia, Increased variability in muscle fiber diameter, Positive Romberg sign, ... OMIM:607459
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, So... OMIM:616924
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Muscle weakness, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral a... OMIM:105550
Arts Syndrome
Optic atrophy, Spinal cord posterior columns myelin loss, Progressive muscle weakness, Tetraplegi... OMIM:301835
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:620246
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Spinal Muscular Atrophy, Type Ii
Tongue fasciculations, Skeletal muscle atrophy, Muscle weakness, Hand tremor, Spinal muscular atr... OMIM:253550
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Impaired pain sensation, Fascicul... OMIM:619574
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Resting tremor, Limb muscle weakness, Rhabdomyoly... OMIM:157640
Spinocerebellar Ataxia 17
Broad-based gait, Cerebellar atrophy, Chorea, Limb ataxia, Positive Romberg sign, Gait ataxia, Dy... OMIM:607136
Mitochondrial Dna Depletion Syndrome 18
Tongue fasciculations, Distal amyotrophy, Failure to thrive, Foot dorsiflexor weakness, Hand musc... OMIM:618811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... OMIM:618848
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies, Muscle weakness, Proximal muscle weakness OMIM:616231
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decrea... OMIM:606353
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Myoclonus, Tremor, Abnormal lower motor neuron morpho... ORPHA:2590
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Increased endomysial con... OMIM:620542
Distal Myotilinopathy
Distal amyotrophy, Progressive distal muscle weakness, Multiple joint contractures, Abnormal musc... ORPHA:98911
Boucher-Neuhauser Syndrome
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... OMIM:215470
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV OMIM:618952
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Myoclonus, T... OMIM:159950
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Machado-Joseph Disease Type 3
Spasticity, Degeneration of the striatum, Peripheral axonal neuropathy, Abnormal pyramidal sign, ... ORPHA:276244
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Peripheral hypomyelination, Neonat... OMIM:616287
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Increa... OMIM:618940
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Spastic paraparesis, Distal amyotrophy, Somatic sensory ... ORPHA:101077
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Ankle flexion contracture, Abnormal anterior horn cell morphology, Skeleta... ORPHA:1145
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Ataxia, Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Failure... OMIM:618276
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Hand paresthesia, Vocal cord paralysis, Hypoesthesia, Segmental peripheral ... OMIM:162500
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Distal sensory impairmen... OMIM:151800
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Axial muscle weakness, Progressive external ophthalmoplegia, Respirator... ORPHA:663
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Distal upper limb muscle weakness, Myopathy, Weakness of faci... OMIM:617030
Spinocerebellar Ataxia 43
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... OMIM:617018
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Tremor, Distal sensory impairment, Spinal muscular atrop... OMIM:615048
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... ORPHA:101097
Multifocal Motor Neuropathy
Fasciculations, Progressive distal muscle weakness, Limb muscle weakness, Progressive muscle weak... ORPHA:641
Juvenile Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Muscle fiber atrophy, Axial dystonia, Proximal muscle weakness, Op... ORPHA:300605
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty... OMIM:619042
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb muscle weakness, Distal upper limb amyotrophy, Foot dorsiflexo... ORPHA:603
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy, Distal muscle weakness OMIM:604454
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Ophthalmoparesis, Muscle fiber atrophy, Type 1 mu... OMIM:618654
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Paralysis, Axonal loss, Dystonia, Athetosis OMIM:300857
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal sensory impairment, Demyelinating perip... ORPHA:99948
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Knee flexion contracture, Decre... OMIM:615490
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Failure to thrive, Proximal muscle weakness, Generali... OMIM:255310
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Fasciculations, Tremor, Proximal muscle weakness, Spinal muscular atrophy, Pro... OMIM:182980
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... OMIM:607317
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Gowers sign, Proximal muscle weakness, Axial muscle w... OMIM:255200
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ophthalmoparesis, Upper limb muscle weakness, Lower limb muscle weakness, Intermittent episodes o... OMIM:601462
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Skeletal muscle atrophy, Basal lamina onion bulb formation... OMIM:614895
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... OMIM:601162
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... OMIM:616155
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, Neck mus... ORPHA:97240
Myasthenic Syndrome, Congenital, 5
Ophthalmoparesis, Decreased muscle mass, Neck muscle weakness, Limb muscle weakness, Fatigable we... OMIM:603034
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Cerebral atrophy, Limb muscle weakness, Ragged-red muscle fibers, EMG:... OMIM:609286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Oculopharyngeal Muscular Dystrophy 1
Neck muscle weakness, Limb muscle weakness, Ragged-red muscle fibers, Proximal muscle weakness, D... OMIM:164300
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Neck muscle weakness, Weakness of facia... OMIM:619477
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... ORPHA:98764
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... ORPHA:401840
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers OMIM:619024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Autosomal Dominant Spastic Paraplegia Type 38
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Thenar muscle atrophy, Impaired ... ORPHA:171617
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal amyotrophy, Cerebellar atrophy, Demyelinating sensory neuropathy, Gait ataxia, Limb muscle... OMIM:618387
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ophthalmoparesis, Decreased miniature endplate potentials, Neck muscle weakness, Limb muscle weak... OMIM:608930
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Distal upper limb muscle weakness, Impaired pain sensation, L... OMIM:607684
Amyotrophic Lateral Sclerosis 1
Spasticity, Skeletal muscle atrophy, Muscle weakness, Amyotrophic lateral sclerosis, Pseudobulbar... OMIM:105400
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Myoclonus, Ragged-red muscle fibers, Myopathy, Ataxia, Muscle weakness OMIM:545000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, ... OMIM:607734
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Lower limb spasticity, Amyotrophic lateral sclerosis, Low... OMIM:614373
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Gait ataxia, Basal ganglia gliosis, Loss of ambulation, Gait disturbance, Ataxia, D... ORPHA:225154
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Ophthalmoparesis, Facial diplegia, Type 1 muscle fibe... ORPHA:169186
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Neck muscle weakness, Limb muscle we... OMIM:617258
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... ORPHA:88628
Inclusion Body Myositis
Rimmed vacuoles, Distal muscle weakness, Inflammatory myopathy, Proximal muscle weakness OMIM:147421
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Facial palsy, Ragged-red muscle fibers, Neck flexor weak... OMIM:616209
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodege... OMIM:614298
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory paralysis, Paralysis, Increa... ORPHA:681
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:613204
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ragged-red musc... ORPHA:457050
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotrophic lateral sclerosis, Decreased ne... OMIM:612577
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy... OMIM:255160
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy... ORPHA:1320
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Muscle weakness, Slurred speech ORPHA:401953
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Desminopathy
Axial muscle weakness, Distal lower limb muscle weakness, Weakness of facial musculature, Progres... ORPHA:98909
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations OMIM:619141
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelination, Pe... OMIM:604168
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Spasticity, Distal muscle weakness, Amyotrophic lateral sclerosis OMIM:611895
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Optic Atrophy 2
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor OMIM:311050
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance, Muscle weakness OMIM:616304
Bethlem Muscular Dystrophy
Neck muscle weakness, Gowers sign, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy... ORPHA:610
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Ankle weakness, Shoulder girdle muscle weakness, Amyotrophic... ORPHA:600
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Involuntary movements, Increased variability in muscle fiber diameter, Ske... ORPHA:238329
X-Linked Progressive Cerebellar Ataxia
Spinocerebellar tract degeneration, Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amy... ORPHA:1175
Postsynaptic Congenital Myasthenic Syndromes
Ophthalmoparesis, Skeletal muscle atrophy, Upper limb muscle weakness, Ankle weakness, Hip flexor... ORPHA:98913
Striatonigral Degeneration, Infantile, Mitochondrial
Ophthalmoparesis, Poor motor coordination, Incoordination, Chorea, Myoclonus, Ragged-red muscle f... OMIM:500003
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Muscular Dystrophy, Congenital, With Or Without Seizures
Proximal muscle weakness, Progressive muscle weakness, Hypoglycosylation of alpha-dystroglycan, A... OMIM:620166
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Proxi... OMIM:609524
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Muscle weakness OMIM:614808
Acute Peripheral Arterial Occlusion
Paralysis, Paresthesia, Limb muscle weakness, Impaired distal tactile sensation ORPHA:90064
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Proximal mus... OMIM:256030
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... OMIM:616286
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... OMIM:616668
Pontocerebellar Hypoplasia, Type 1A
Tongue fasciculations, Degeneration of anterior horn cells, Distal amyotrophy, Congenital contrac... OMIM:607596
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Hip contracture, Proximal muscle weakness, Weakness o... OMIM:615959
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Babinski sign, Lower limb spasticity, ... ORPHA:401820
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Increased variability in muscle fiber diameter, Failure to thrive, Camptod... OMIM:614399
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Peripheral axonal neuropathy, Spastic ataxia, Ab... ORPHA:137898
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Calf muscle hyper... ORPHA:98896
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, External ophthalmoplegia, Type 1 muscle fiber pre... OMIM:160565
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Prox... OMIM:258450
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171863
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Babinski sign, Respiratory in... OMIM:612069
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Limb muscle weakness, Tre... OMIM:607458
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ophthalmoparesis, Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Generalized mu... ORPHA:254875
Pontocerebellar Hypoplasia, Type 4
Loss of Purkinje cells in the cerebellar vermis, Gliosis, Hypoplasia of the pons, Cerebellar hypo... OMIM:225753
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Type 1 fibers relativ... ORPHA:596
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Neck muscle weakness, Spi... ORPHA:466768
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... OMIM:180800
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness, Scapular wing... OMIM:616471
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri... OMIM:300696
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congeni... ORPHA:171439
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal amyotrophy, Impaired pain sensation, Hand tremor, Peripheral demyelination, Decreased comp... OMIM:618279
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Abnormality of the ... ORPHA:330050
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, External ophthalmoplegia, Postur... OMIM:619790
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Choreoathetosis, Abnormal mitochondrial morphology OMIM:300438
Moderate Multiminicore Disease With Hand Involvement
Distal upper limb muscle weakness, Type 1 muscle fiber predominance, Generalized muscle weakness,... ORPHA:178145
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Motor axonal neuropathy, Weakness of facial muscula... OMIM:617519
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreo... OMIM:606777
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Myoclonus, Babinski sign, Increased intramyocellu... OMIM:619065
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ophthalmoparesis, Decreased miniature endplate potentials, Limb muscle weakness, Fatigable weakne... OMIM:605809
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Progressi... OMIM:619518
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Combined Oxidative Phosphorylation Deficiency 6
Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... OMIM:300816
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Paresthesia, Distal sen... OMIM:263570
Infantile Refsum Disease
Optic atrophy, Spasticity, Failure to thrive, Progressive muscle weakness, Ataxia, Facial palsy ORPHA:772
Autosomal Recessive Progressive External Ophthalmoplegia
External ophthalmoplegia, Optic atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Cerebral ... ORPHA:254886
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:608807
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis, Gait disturbance, Neuronal loss in central nervous syste... OMIM:600795
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Dystonia, Cho... ORPHA:71277
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... OMIM:221770
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Gowers sign, Calf muscle hypertrophy, Proximal mu... OMIM:611615
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... ORPHA:101085
Adrenomyeloneuropathy
Spasticity, Leg muscle stiffness, Progressive spastic paraparesis, Distal sensory impairment, Axo... ORPHA:139399
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ophthalmoparesis, Decreased miniature endplate potentials, Generalized hypotonia due to defect at... OMIM:254210
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Neck muscle weakness,... OMIM:160500
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degeneration, Peripheral axonal degen... OMIM:162100
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Gait ataxia, Tremor, Distal muscle weakness ORPHA:423296
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Myoclonus, Ragged-red muscle fibers, Tremor, Diffuse cerebral atrophy, Decrea... OMIM:607426
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Gliosis, Neuronal loss in central nervous system, Ataxia ORPHA:204
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Gait di... ORPHA:412217
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Gait disturbance, Corpus callo... OMIM:221820
Myasthenic Syndrome, Congenital, 12
Ophthalmoparesis, Neck muscle weakness, Ragged-red muscle fibers, Fatigable weakness, Proximal mu... OMIM:610542
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... OMIM:617892
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Charcot-Marie-Tooth Disease And Deafness
Distal amyotrophy, Decreased motor nerve conduction velocity, Ankle weakness, Thenar muscle weakn... OMIM:118300
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... OMIM:614561
Spinocerebellar Ataxia 38
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropa... OMIM:615957
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Ataxia OMIM:236792
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Leukodystrophy, Ragged-red muscle fibers, Myopathy, Babinski sign, Ataxia OMIM:618242
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Subacute Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, Choreoathetosis, Soma... ORPHA:206594
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasc... OMIM:608030
Progressive Non-Fluent Aphasia
Temporal cortical atrophy, Frontotemporal cerebral atrophy, Astrocytosis, Abnormal lower motor ne... ORPHA:100070
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... ORPHA:100999
Autosomal Dominant Spastic Paraplegia Type 8
Peroneal muscle atrophy, Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vib... ORPHA:100989
Pontocerebellar Hypoplasia Type 1
Tongue fasciculations, Spasticity, Optic atrophy, Skeletal muscle atrophy, Muscle weakness, Failu... ORPHA:2254
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Imp... ORPHA:139578
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Tremor, Progressive cerebellar ataxia ORPHA:98773
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ophthalmoparesis, Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Lower l... OMIM:616479
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness, Fiber type grouping, Th... OMIM:619903
Spinocerebellar Ataxia Type 2
Ophthalmoparesis, Cerebral cortical atrophy, Spinal cord posterior columns myelin loss, Fascicula... ORPHA:98756
Spinocerebellar Ataxia 28
Ophthalmoparesis, Spasticity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Ragged-red m... OMIM:610246
Machado-Joseph Disease Type 1
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Degeneration of the striatum, Skeletal muscle atrophy, Spinocerebellar tract degenera... ORPHA:276241
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Involuntary movements, Distal amyotrophy, Cerebellar atrophy, Sensory axonal neuro... OMIM:271245
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the l... ORPHA:171612
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, External ophthalmoplegia, Proximal muscle weakness in... ORPHA:169189
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fibers, Progressive muscle ... OMIM:600462
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Gait disturbance, Decreased mitochondrial number ORPHA:352470
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... OMIM:619542
Autosomal Recessive Spastic Paraplegia Type 57
Spastic paraplegia, Spasticity, Distal lower limb amyotrophy, Abnormality of the Achilles tendon,... ORPHA:431329
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Huntington Disease-Like 1
Cerebral cortical atrophy, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Gait disturbance, ... ORPHA:157941
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophthalmoplegia, Faci... OMIM:609283
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... OMIM:610099
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Impaired vibratory sensation, Difficulty walking, Decreased activity of mitochondrial complex IV,... OMIM:500013
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Spinocerebellar tract degeneration, Cerebral atrophy, Leukodystrophy, Tremor,... OMIM:617916
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis, Paresthesia OMIM:612740
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Chorea, Astrocytosis, Gait ataxia, Tre... ORPHA:282166
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in central nervou... OMIM:256600
Pelizaeus-Merzbacher Disease, Connatal Form
Difficulty walking, Inability to walk, Cerebellar hypoplasia, Dystonic gait, Gliosis, Ataxia, Tit... ORPHA:280210
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Decreased activity of mitochondrial complex IV, Limb dyston... OMIM:604377
Synaptic Congenital Myasthenic Syndromes
Neck muscle weakness, Myopathy, Proximal muscle weakness, Generalized muscle weakness, Hand muscl... ORPHA:98915
Immunoneurologic Disorder, X-Linked
Spastic paraplegia, Progressive proximal muscle weakness, Small for gestational age, Neonatal death OMIM:300076
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Tremor, Gait disturbance, Gliosis OMIM:300957
Mitochondrial Complex I Deficiency, Nuclear Type 28
Cerebellar atrophy, Akinesia, Decreased activity of mitochondrial complex I, Truncal ataxia, Chor... OMIM:618249
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Gowers sign, Neck muscle weakness, Limb muscle weakness... OMIM:609285
Spastic Paraplegia 50, Autosomal Recessive
Cerebellar atrophy, Gliosis, Ataxia OMIM:612936
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebral atrophy, Tremor, Myopathy, Progr... OMIM:615512
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Weakness of facial musculature, Progressive ex... OMIM:617069
Congenital Myopathy 2A, Typical, Autosomal Dominant
Late-onset distal muscle weakness, Nemaline bodies, Arthrogryposis multiplex congenita, Slender b... OMIM:161800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Cerebral cortical atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Pro... OMIM:617070
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers, Abnormality of extrapyramidal motor function, Ataxia, Dystonia, Athetosis OMIM:615159
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cerebellar dysplasia, Gait disturbance, Gliosis, Tremor ORPHA:457240
Spinocerebellar Ataxia 21
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Akinesia, Ataxia, Dystonia, Intent... OMIM:607454
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ... OMIM:253310
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia, Spastic gait, Slurred ... ORPHA:972
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter, Chorea, Myoclonus, Delayed CNS myelination, Optic... OMIM:617235
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Inability to walk, Cerebellar cyst, Gliosis, Ataxia, Cerebellar gliosis, Dyston... ORPHA:79243
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Oculopharyngeal Myopathy With Leukoencephalopathy 1
External ophthalmoplegia, Cerebral atrophy, Tremor, Proximal muscle weakness, Weakness of facial ... OMIM:618637
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature, Proximal muscle weaknes... OMIM:618416
Machado-Joseph Disease
Impaired vibratory sensation, Cerebellar atrophy, Dilated fourth ventricle, Limb ataxia, Gliosis,... OMIM:109150
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Upper limb muscle weakness, Somatic sensory dysfunction, Lower limb muscle weakness, Limb fascicu... ORPHA:90117
Myopathy, Myofibrillar, 6
Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Distal sensory impairment,... OMIM:612954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Gowers sign, Bulbar palsy, ... OMIM:603511
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar hemisphere hypoplasia, Cerebellar atrophy, Gliosis, Cerebral atrophy OMIM:615095
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, ... OMIM:600363
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Progressive external ophth... ORPHA:98757
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory... OMIM:300580
Combined Oxidative Phosphorylation Deficiency 58
Cerebellar atrophy, Difficulty walking, Decreased activity of mitochondrial complex IV, Gait atax... OMIM:620451
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Decreased activity of mitochondrial complex IV, Decreased ... OMIM:616239
Poliomyelitis
Myelitis, Hypoplasia of the musculature, Skeletal muscle atrophy, Muscle flaccidity, Lower limb m... ORPHA:2912
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Spasticity, Left ventricular noncompaction, Myoclonus, Ragged-red muscle fibers, O... OMIM:252011
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Neck muscle weakness, Ragged-red muscle fibers, Increased muscle lipid content... OMIM:500009
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia, Progressive muscle weakne... OMIM:615919
Japanese Encephalitis
Muscle flaccidity, Opisthotonus, Paucity of anterior horn motor neurons, Choreoathetosis, Cogwhee... ORPHA:79139
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, At... ORPHA:101078
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor ORPHA:217012
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Leg muscle stiffness, Impaired vibration sensation in the lower limbs, Limb a... ORPHA:251282
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Decreased nerve conduction velocity, Facia... ORPHA:329478
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Proximal muscle weakness, Spinal cord lesio... ORPHA:320355
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Cerebral atrophy, Chorea, Myopathy, Hyperkinetic movements, Trunc... ORPHA:369847
Pontocerebellar Hypoplasia, Type 2A
Cerebral cortical atrophy, Hypoplasia of the pons, Chorea, Cerebellar hypoplasia, Opisthotonus, G... OMIM:277470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs ORPHA:1878
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Babinski sign, Calf muscle hypertrophy, Pelvic girdle muscle... ORPHA:263494
Cerebrotendinous Xanthomatosis
Spasticity, Spastic paraparesis, Myelopathy, Resting tremor, Tendon xanthomatosis, Parkinsonism, ... ORPHA:909
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Abnormal cerebellum morphology, Corpus callosum atrophy, Gliosis, Ataxia OMIM:169500
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar hypoplasia, Abnormal astrocyte morphology, Cerebellar atrophy, Gliosis ORPHA:168486
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance ORPHA:275864
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Decreased compound muscle action potential amplitude, Multiple joint contr... OMIM:301830
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... OMIM:616719
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Neck... OMIM:614302
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Spinocerebellar Ataxia 1
Spasticity, Proximal muscle weakness, Optic disc pallor, Progressive cerebellar ataxia, Impaired ... OMIM:164400
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... ORPHA:397744
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Ophthalmoparesis, Atrophy/Degeneration involving the spinal cord, I... ORPHA:70595
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar vermis hypoplasia, Abnormal mitochondrial shape, Cerebellar atrophy, Gait ataxia, Diff... ORPHA:543470
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Hemiplegia/hemiparesis, Progressive external o... ORPHA:480
Congenital Fiber-Type Disproportion Myopathy
Hypoplasia of the musculature, Weakness of muscles of respiration, Hip contracture, Generalized m... ORPHA:2020
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Spasticity, Optic atrophy, Abnormal auditory evok... OMIM:125250
O'Sullivan-Mcleod Syndrome
Upper limb muscle weakness, Cold paresis, Fasciculations, Hand muscle weakness, Tremor, Intrinsic... ORPHA:99965
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... OMIM:611302
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Failure to thrive, Type 1 muscle fiber predominance, Fatigable weakness, Myopa... ORPHA:424107
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Skeletal muscle atrophy, Limb muscle weakness, Myoclonus, Tremor, Abno... ORPHA:97229
Combined Oxidative Phosphorylation Defect Type 13
Ankle flexion contracture, Failure to thrive, Decreased nerve conduction velocity, Limb dystonia,... ORPHA:319514
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Amyotrophic lateral sclerosis, Muscle weakness, Fasciculations OMIM:613435
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Generalized muscle weakness, Progressive external ophtha... OMIM:613662
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... OMIM:610245
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Ab... ORPHA:401830
Combined Oxidative Phosphorylation Deficiency 18
Increased mitochondrial number, Tremor, Decreased activity of mitochondrial complex I, Dysmetria OMIM:615578
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Secondary Syringomyelia
Facial paralysis, Somatic sensory dysfunction, Pseudobulbar paralysis, Paraplegia, Paresthesia, F... ORPHA:99857
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Akinesia, Tremor, Dystonia OMIM:300894
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Proximal muscle weakness, Bulbar palsy,... OMIM:615911
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... ORPHA:99014
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ... OMIM:600334
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Failure to thrive, Muscle weakness, Ataxia OMIM:618951
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Poor head control, Decreased miniature endplate potentials, Prolonged miniature endplate currents... OMIM:616321
Autosomal Dominant Spastic Paraplegia Type 12
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... ORPHA:100993
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Difficulty walking, Astrocytosis, Inability to walk OMIM:611087
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Ataxia OMIM:619099
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Myoclonus, Tremor, Poor head control, Dystonia OMIM:619651
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Tremor, Ataxia OMIM:615945
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Spinocerebellar ... OMIM:183090
Developmental And Epileptic Encephalopathy 14
Cerebral cortical atrophy, Gliosis, Neuronal loss in central nervous system OMIM:614959
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness OMIM:615515
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin... OMIM:613205
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Myoclonus, Tremor, Proximal muscle weakness, Decreased level of coenzyme Q10 ... OMIM:612016
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Gait ataxia, Ataxia OMIM:617915
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Weakness of facial muscula... ORPHA:171445
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Multiple joint contractures, Trem... ORPHA:521406
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hand t... OMIM:162400
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Shuffling gait, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Ataxia, Cerebellar corti... ORPHA:247234
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Distal sensory impairment OMIM:604218
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ophthalmoparesis, Skeletal muscle atrophy, Decreased muscle mass, Fatigable weakness, Decreased s... OMIM:608931
Optic Atrophy 11
Increased variability in muscle fiber diameter, Optic atrophy, Facial diplegia, Dysmetria, Hyperk... OMIM:617302
Allan-Herndon-Dudley Syndrome
Spasticity, Spastic tetraplegia, Small for gestational age, Decreased body mass index, Skeletal m... ORPHA:59
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Periodic paralysis, Muscle weakness, Myopathy OMIM:170400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Failure to thrive, Limb muscle weakness, Progressive external ophthalmoplegia... OMIM:610131
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Spinal muscular atrophy,... OMIM:616867
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... ORPHA:101075
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Trem... ORPHA:98763
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Fatiguable weakness o... ORPHA:171881
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Neurodegeneration, Chorea, Dystonia, Paralysis, Abnormal pyramidal sign, Hypert... OMIM:272750
Rabies
Vocal cord paresis, Paresthesia, Cerebral palsy ORPHA:770
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Resting tremor, Inability to walk, Akinesia, Gait a... ORPHA:391411
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Brown-Vialetto-Van Laere Syndrome 1
External ophthalmoplegia, Tongue fasciculations, Skeletal muscle atrophy, Neck muscle weakness, H... OMIM:211530
Coenzyme Q10 Deficiency, Primary, 9
Type 2 muscle fiber predominance, Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Lower limb sp... OMIM:619028
Spinocerebellar Ataxia 12
Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto... OMIM:604326
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Spasticity, Involuntary movements, Failure to thrive, Cerebral atrophy, Abnormalit... ORPHA:442835
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Ophthalmoplegia, Respiratory insuffic... OMIM:607855
Spinocerebellar Ataxia With Epilepsy
Ophthalmoparesis, Optic atrophy, Sensory axonal neuropathy, Gait ataxia, Myoclonus, Dysmetria, Tr... ORPHA:254881
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Chorea, Muscle fiber atrophy, Myopathy, Proxi... ORPHA:369840
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Skeletal muscle atrophy, Impaired vibration sensati... OMIM:609033
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervous system physio... OMIM:618049
Combined Oxidative Phosphorylation Deficiency 29
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed... OMIM:616811
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
External ophthalmoplegia, Increased variability in muscle fiber diameter, Spastic paraplegia, Dec... OMIM:619026
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Failure to thrive, Generalized mu... OMIM:614096
Supranuclear Palsy, Progressive, 1
Falls, Cerebral atrophy, Akinesia, Astrocytosis, Limb dystonia, Axial dystonia, Retrocollis, Trem... OMIM:601104
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Tremor, Abnormality of ext... OMIM:615362
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Tetraparesis, Tremor,... OMIM:620546
Familial Cervical Artery Dissection
Paralysis, Paresthesia, Facial palsy ORPHA:36382
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Abnormality of the eleventh cranial nerve, Myelopathy, Somatic sen... ORPHA:268882
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... ORPHA:79263
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Pain insensitivity, Skeletal muscle atrophy, Failure to thrive, Painless fractures due to injury,... OMIM:256810
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... OMIM:128230
Diabetes Insipidus, Neurohypophyseal
Gliosis OMIM:125700
Spinocerebellar Ataxia, Autosomal Recessive 16
External ophthalmoplegia, Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babi... OMIM:615768
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Spastic dysarthria, Distal amyotrophy, Lower limb muscle weaknes... ORPHA:313772
Hemimegalencephaly
Abnormal neuron morphology, Gliosis ORPHA:99802
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia OMIM:618425
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal s... OMIM:616505
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Segawa Syndrome, Autosomal Recessive
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal upper limb muscle... OMIM:606071
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Cerebellar atrophy ORPHA:352447
De Sanctis-Cacchione Syndrome
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Leukodystrophy, Axonal degener... OMIM:278800
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Neurodegeneration, Cerebellar hypoplasia, Diffuse cerebral atrophy, Gliosis, ... OMIM:214150
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordina... ORPHA:297
Typical Nemaline Myopathy