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

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 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hyperlysinemia Due To Defect In Lysine Transport Into Mitochondria
Mitochondrial lysine transport defect OMIM:238710
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology, Hand muscle atrophy, Lower limb muscle weakness, Vocal co... OMIM:607641
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Degeneration of anterior horn cells, Proximal amyotrophy, Axonal deg... OMIM:604484
Charcot-Marie-Tooth Disease Type 2B1
Distal upper limb muscle weakness, Proximal muscle weakness, Hand muscle atrophy, Decreased numbe... ORPHA:98856
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Proximal muscle weakness in lower limb... OMIM:619733
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Fasciculations, Progressive muscle weakness, Distal muscle weakness, Pos... OMIM:608627
Juvenile Primary Lateral Sclerosis
Abnormal pyramidal sign, Spastic tetraparesis, Spastic gait, Skeletal muscle atrophy, Spastic dys... ORPHA:247604
Tibial Muscular Dystrophy
Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, Increased variability in musc... ORPHA:609
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Atrophy of the spinal cor... OMIM:602433
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Hypertrophic nerv... DECIPHER:29
Myopathy, Scapulohumeroperoneal
Achilles tendon contracture, Hand muscle atrophy, Foot dorsiflexor weakness, Nemaline bodies, Ske... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Gowers sign, Shoulder girdle muscle atrophy, Increase... OMIM:254110
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Amyotrophy of ankle musculature, Joint contracture of the... ORPHA:399086
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Resting tremor, Centrally nucleated skeletal muscle fibers, Involuntary movements, Incr... ORPHA:401768
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Hand tremor, Frequent... OMIM:302800
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Axial muscle weakness, Limb-girdle muscle weakness, Increased variabil... ORPHA:399058
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebral atrophy, Cerebellar atrophy, Gait ataxia, Gliosis, Torticollis OMIM:618369
Nemaline Myopathy 5
Nemaline bodies, Progressive muscle weakness, Proximal amyotrophy, Type 1 muscle fiber predominan... OMIM:605355
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Tetraparesis, Abnormal lower motor neuron morphology, Sk... OMIM:613954
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Amish Nemaline Myopathy
EMG: myopathic abnormalities, Progressive muscle weakness, Proximal amyotrophy, Type 1 muscle fib... ORPHA:98902
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal pyramidal sign, Abnormal lower motor neuron morphology, Fasciculations, Distal muscle we... OMIM:602099
Distal Myopathy With Anterior Tibial Onset
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Limb-girdle muscle weaknes... ORPHA:178400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Somatic sensory dysfunction, Proximal lower limb amyotrophy, Proximal muscle weakness in lower li... OMIM:158600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Foot dorsiflexor weakness, Limb-girdle muscular dystrophy, Proximal muscle weakness in lower limb... OMIM:615424
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber pr... OMIM:618655
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Flexion contracture, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, EMG: myopath... OMIM:608423
Myopathy, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Scapuloperoneal amyot... OMIM:608358
Central Core Disease Of Muscle
Nemaline bodies, Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Weaknes... OMIM:117000
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Gliosis, Limb ataxia, Tremor OMIM:213200
Vacuolar Neuromyopathy
Foot dorsiflexor weakness, Centrally nucleated skeletal muscle fibers, Muscle fiber splitting, Ri... OMIM:601846
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Peripheral axonal degeneration, Foot dorsiflexor weakness, Fasciculations, Axonal degeneration, A... OMIM:614436
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp... ORPHA:95434
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Diaphragmatic weakness, Small for gestational age, Degeneration o... OMIM:604320
Tricarboxylic Acid Cycle, Defect Of
Decreased activity of the pyruvate dehydrogenase complex OMIM:275370
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic tetraparesis, Abnormal lower motor neuron morphology, Dystonia, Spastic gait, Hand muscle... OMIM:205100
Tubular Aggregate Myopathy
Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter, EMG: myopathic abnor... ORPHA:2593
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Limb muscle weakness, Muscle weakness, Spasticity, Abnorm... OMIM:614373
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Nemaline bodies, Weakness of l... ORPHA:399103
Myopathy, Myofibrillar, 4
Muscle fiber splitting, EMG: myopathic abnormalities, Progressive muscle weakness, Autophagic vac... OMIM:609452
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Abnormal cranial nerve morphology, Decreased number of large peri... OMIM:601596
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Distal muscle weakness, Distal amyotrophy, Tremor OMIM:158580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Somatic sensory dysfunction, Frequent falls, Flexion contracture, Impaired vibratory sensation, H... ORPHA:99947
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb form... OMIM:606482
Hereditary Myopathy With Early Respiratory Failure
Muscle fiber hypertrophy, Foot dorsiflexor weakness, Skeletal muscle atrophy, Muscle fiber splitt... ORPHA:178464
Mitochondrial Myopathy With Diabetes
Ragged-red muscle fibers, EMG: myopathic abnormalities, Ataxia, Proximal amyotrophy, Weakness of ... OMIM:500002
Combined Oxidative Phosphorylation Deficiency 46
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV OMIM:618952
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Frequent falls, Skeletal myopathy, Sternocleidomastoid amyotrophy, I... ORPHA:2596
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Distal muscle weakness, Respi... OMIM:611067
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Neurodegeneration, Ske... OMIM:615157
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Ataxia, Muscle weakness, Peripheral axonal neuropat... OMIM:611105
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Abnormal lower motor neuron morphology, Parkinsonism, Apraxia, Global brain atrophy... ORPHA:275872
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells, Proximal amyotrophy, Tongue fasciculations, Pro... OMIM:271150
Spinal Muscular Atrophy, Type Iii
Hand tremor, Limb fasciculations, Skeletal muscle atrophy, Degeneration of anterior horn cells, M... OMIM:253400
Myopathy, Distal, With Rimmed Vacuoles
Foot dorsiflexor weakness, Skeletal muscle atrophy, Facial palsy, Increased variability in muscle... OMIM:617158
Huntington Disease
Cerebellar atrophy, Gait ataxia, Chorea, Gliosis, Neuronal loss in central nervous system OMIM:143100
Myofibrillar Myopathy 11
Axial muscle weakness, Gowers sign, Shoulder girdle muscle atrophy, Generalized amyotrophy, Incre... OMIM:619178
Inclusion Body Myositis
Inflammatory myopathy, Skeletal muscle atrophy, Ragged-red muscle fibers, Quadriceps muscle weakn... ORPHA:611
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Choreoathetosis, Decreased number o... OMIM:208920
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis, Bulbar palsy, Muscle weakness, A... OMIM:105500
Congenital Myasthenic Syndromes With Glycosylation Defect
Frequent falls, Scapular winging, Flexion contracture, Gowers sign, Limb-girdle muscle weakness, ... ORPHA:353327
Laing Early-Onset Distal Myopathy
Minicore myopathy, Foot dorsiflexor weakness, Proximal muscle weakness in lower limbs, EMG: myopa... ORPHA:59135
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Lower limb amyotrophy, Frequent falls, Somatic sensory dysfunction, Impaired vibratory sensation,... OMIM:616924
Monomelic Amyotrophy
Fasciculations, Degeneration of anterior horn cells, Muscle weakness, Distal upper limb amyotroph... ORPHA:65684
Oculopharyngodistal Myopathy
Proximal muscle weakness in upper limbs, Abnormality of facial musculature, Abnormality of masset... ORPHA:98897
Neuronopathy, Distal Hereditary Motor, Type Iia
Distal muscle weakness, Paresis of extensor muscles of the big toe, Paralysis, Distal lower limb ... OMIM:158590
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Weakness of the intrinsic hand mus... ORPHA:98912
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Muscle weakness, Impair... OMIM:607459
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Weakness of muscles of respiration, Sensory axonal neuropathy, Fasciculations, Increased variabil... ORPHA:52430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Bulbar palsy, Mu... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations, Bulbar palsy, Mu... OMIM:616437
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Muscle weakness, Proximal muscle weakness, Ce... OMIM:613530
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Rhabdomyolysis, Progressive muscle weakness, Progressive... ORPHA:399096
Nonaka Myopathy
Deposits immunoreactive to beta-amyloid protein, EMG: myopathic abnormalities, Distal muscle weak... OMIM:605820
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Foot dorsiflexor weakness, Facial hypotonia, Fatty replacement of skeletal muscle, Hip flexor wea... ORPHA:266
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Dystonia, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn mot... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Foot dorsiflexor weakness, Vocal cord paresis, Polyminimyoclonus, Fasciculations, Intrinsic hand ... OMIM:619574
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, CNS hypomyelination, Hypertrophic nerve changes, Axonal degenerat... OMIM:214400
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Babinski sign, Abnormal upper motor neuro... OMIM:611637
Myopathy, Congenital Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Tongue fasciculations, Z-band streaming, Pro... OMIM:618823
Myopathy, Centronuclear, 1
Flexion contracture, EMG: myopathic abnormalities, External ophthalmoplegia, Type 1 muscle fiber ... OMIM:160150
Spinocerebellar Ataxia 17
Cerebellar atrophy, Dysmetria, Dystonia, Intention tremor, Ataxia, Gait ataxia, Neuronal loss in ... OMIM:607136
Spinal Muscular Atrophy, Type Ii
Hand tremor, Skeletal muscle atrophy, Degeneration of anterior horn cells, Muscle weakness, Tongu... OMIM:253550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Increased variability in muscle f... OMIM:618848
Oculopharyngodistal Myopathy 2
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, EMG: myop... OMIM:618940
Arts Syndrome
Ataxia, Progressive muscle weakness, Tetraplegia, Spinal cord posterior columns myelin loss, Opti... OMIM:301835
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Foot dorsiflexor weakness, Axonal degeneration, Distal muscle weakness, Fail... OMIM:618811
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Cerebral atrophy, Abnormal lower motor neuron morphology, Parkinsonism, Extrapyrami... OMIM:105550
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Gowers sign, Proximal muscle weakness in lower limbs, In... OMIM:618138
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Abnormal sensory nerve conduction velocity, Intrinsic ha... ORPHA:276435
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle amyotrophy, Dystonia, Scapular winging, Shoulder girdle muscle atrophy, Temporal co... OMIM:167320
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Sensory axonal neuropathy, Parkinsonism, Rhabdomyolysis, Resting tremor, Skeletal muscle atrophy,... OMIM:157640
Marinesco-Sjogren Syndrome
Flexion contracture, Skeletal muscle atrophy, Cerebellar cortical atrophy, Progressive muscle wea... OMIM:248800
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Hypertonia, Foot dorsiflexor weakness, Flexion contracture, Onion bulb formation, Limb muscle wea... OMIM:609260
Distal Myotilinopathy
Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Progre... ORPHA:98911
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Gowers sign, Fasciculations, Degeneration of anterior horn cells, Progressive dis... OMIM:159950
Spastic Paraplegia Type 7
Cerebellar atrophy, Somatic sensory dysfunction, Spastic gait, Abnormal mitochondrial morphology,... ORPHA:99013
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Skeletal muscle atrophy, Muscle weakness, Distal muscle weakness, Distal amyotrophy, Tremor OMIM:614369
Distal Myopathy, Welander Type
Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Intrinsic hand muscle atroph... ORPHA:603
Myopathy, Centronuclear, 2
Scapular winging, Axial muscle weakness, Flexion contracture, Gowers sign, Generalized amyotrophy... OMIM:255200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Inflammatory myopathy, Skeletal muscle atrophy, Degeneration of anterior horn cells, Ankle flexio... ORPHA:1145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness, Proximal muscle weakness in l... OMIM:601954
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Left ventricular hypertrophy, Gowers sign, Limb-girdle muscle weakness, Generalized amyotrophy, I... ORPHA:86812
Primary Lateral Sclerosis, Juvenile
Spastic tetraparesis, Spastic gait, Spastic dysarthria, Spasticity of pharyngeal muscles, Cerebra... OMIM:606353
Neuronopathy, Distal Hereditary Motor, Type Iib
Distal lower limb muscle weakness, Paresis of extensor muscles of the big toe, Paralysis OMIM:608634
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Increased variability in muscle fiber diameter, Hand musc... OMIM:606070
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weak extraocular muscles, Increased variability in muscle fiber diameter, Type 1 muscle fiber pre... OMIM:618654
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Vocal cord paralysis, Hand muscle weakness, Han... OMIM:162500
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Spasticity, D... OMIM:215470
Muscular Dystrophy, Congenital, Merosin-Positive
Flexion contracture, Congenital muscular dystrophy, Increased variability in muscle fiber diamete... OMIM:609456
Multifocal Motor Neuropathy
Weakness of long finger extensor muscles, Fasciculations, Progressive muscle weakness, Motor cond... ORPHA:641
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Opisthotonus, Muscle weakness, Clonus, Proximal muscle weakness, Axial dystonia, Skelet... ORPHA:300605
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Axial muscle weakness, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness... ORPHA:663
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Impaired distal propr... ORPHA:101097
Pleoconial Myopathy With Salt Craving
Proximal muscle weakness, Paralysis, Myopathy, Proximal amyotrophy OMIM:262900
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Oculopharyngodistal Myopathy 3
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Generaliz... OMIM:619473
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Neck muscle weakness, Weakness of facial musculature, ... OMIM:619477
Machado-Joseph Disease Type 3
Dystonia, Degeneration of the striatum, Progressive cerebellar ataxia, Abnormality of extrapyrami... ORPHA:276244
Zebra Body Myopathy
Nemaline bodies, Myofibrillar myopathy, Axial muscle weakness, Limb-girdle muscular dystrophy, Go... ORPHA:97240
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Paralysis, Neurodegeneration, Skeletal muscle atrophy, Fatigable weakness o... ORPHA:803
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Abnormal lower motor neuron morphology, Frequent falls, Lower limb muscle weakn... ORPHA:2590
Welander Distal Myopathy
Distal muscle weakness, Rimmed vacuoles, Distal amyotrophy OMIM:604454
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Axial muscle weakness, Skeletal muscle atrophy, Type 1 and ty... OMIM:255320
X-Linked Charcot-Marie-Tooth Disease Type 3
Foot dorsiflexor weakness, Somatic sensory dysfunction, Intrinsic hand muscle atrophy, Proximal m... ORPHA:101077
Nemaline Myopathy 2
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Arthrogrypos... OMIM:256030
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Fasciculations, Muscle weakness, Distal sensory impairment, Spinal muscu... OMIM:615048
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Distal amyot... OMIM:617018
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, CNS hypomyelination, Ataxia, Leukodystrophy, Postural tr... OMIM:607694
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Paralysis, Skeletal muscle atrophy, Muscle weakness, Peripheral axonal neuropathy, Contractures o... OMIM:613710
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased number of large peripheral myelinated nerve fibers, Distal muscle weakness, ... OMIM:605285
Myopathy, Congenital, With Fiber-Type Disproportion
Bulbar palsy, Limb joint contracture, Respiratory insufficiency due to muscle weakness, Failure t... OMIM:255310
Inclusion Body Myositis
Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cerebral atrophy, Sensory axonal neuropathy, Parkinsonism, Ragged-red muscle fibers, Sensory atax... OMIM:609286
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Ataxia, Muscle weakness, Myopathy, Spasticity, Myoclonus OMIM:545000
Distal Myopathy, Tateyama Type
Weakness of the intrinsic hand muscles, Intrinsic hand muscle atrophy, Increased variability in m... ORPHA:488650
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Paroxysmal choreoathetosis, Frequent falls, Ragged-red muscle fibers, Poor motor ... OMIM:500003
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Respiratory insufficiency due to muscle weakness,... OMIM:300717
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Impaired distal proprioception, Frequent falls, Chronic axonal neu... ORPHA:99948
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Abnormal lower motor neuron morphology, Spastic tetraplegia, Spastic... OMIM:607225
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Limb-girdle muscular dystrophy, Proximal lower limb amyotrophy, Flexion limitation of toes, Proxi... OMIM:609115
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Peripheral demyelination, Skeletal muscle atrophy, Vocal cord paresis, Decreased number of large ... OMIM:614895
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Foot dorsiflexor weakness, Frequent falls, Diaphragmatic weakness, S... OMIM:603689
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Distal muscle weakness, Gait ataxia, Peripheral... OMIM:607317
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Foot dorsiflexor weakness, Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal... ORPHA:437572
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Familial Infantile Bilateral Striatal Necrosis
Dystonia, Basal ganglia gliosis, Choreoathetosis, Astrocytosis, Loss of ability to walk, Atrophy/... ORPHA:225154
Salih Myopathy
Flexion contracture, Myopathy, Generalized muscle weakness, Facial palsy, Centrally nucleated ske... OMIM:611705
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Spastic gait, Hand tremor, Lower limb spasticity, Abnormal myelin... ORPHA:401840
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Myofibrillar myopathy, Progressive distal muscle weakness, Distal am... OMIM:609200
Leukodystrophy, Hypomyelinating, 13
Flexion contracture, Ataxia, Leukodystrophy, Failure to thrive, Spasticity, Clonus, Delayed myeli... OMIM:616881
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Scapular winging, Gowers sign, Generalized amyotrophy, Progressive ... ORPHA:169186
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Involuntary movements, Fasciculations, Muscle ... OMIM:300816
Myopathy, Myofibrillar, 5
Muscle fiber cytoplasmatic inclusion bodies, Proximal muscle weakness, Myofibrillar myopathy, Mus... OMIM:609524
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Decreased size of nerve terminals, Limb muscle weakness, Fatigable w... OMIM:603034
Bethlem Myopathy
Axial muscle weakness, Gowers sign, Muscle weakness, Reduced muscle collagen VI, Scapular winging... ORPHA:610
Myopathy, Centronuclear, 4
Muscle weakness, Centrally nucleated skeletal muscle fibers OMIM:614807
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Vocal cord paralysis, Axonal degeneration, Knee flexion contracture, Muscle weakness, Decreased n... OMIM:615490
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers, Progressive muscle weakness OMIM:619024
Myopathy, Distal, 5
Muscle fiber splitting, Myopathy, Distal amyotrophy, Facial palsy, Rimmed vacuoles OMIM:617030
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Skeletal muscle atrophy, Muscle weakness, Myopathy, Rimmed vacuoles, Muscle fiber atrop... OMIM:615422
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Type 2 muscle fiber atrophy, Gowers sign, Bulbar palsy, Neck muscle weakness, Respiratory insuffi... OMIM:608930
Myopathy, Myosin Storage, Autosomal Recessive
Scapuloperoneal amyotrophy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Scapu... OMIM:255160
Hypokalemic Periodic Paralysis
Episodic flaccid weakness, Paralysis, Periodic hypokalemic paresis, Fatigable weakness of respira... ORPHA:681
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Impaired proprioception, Abnormal sensory nerve conduction velocity, Impaired vibration sensation... ORPHA:88628
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Positive Romberg sign, Sensory axonal neuropathy, Parkinsonism, Muscle fiber necrosis, Ragged-red... OMIM:258450
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Proximal muscle weakness in lower limbs, Ragged-red musc... ORPHA:457050
Idiopathic Camptocormia
Cerebral atrophy, Fatigable weakness of skeletal muscles, Syringomyelia, Dystonia, Parkinsonism, ... ORPHA:1320
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Proximal muscle weakness, Distal sensory impairment, Foot dorsiflexor weakness, Axonal degeneration OMIM:616155
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Vocal cord paresis, Decreased nerve conduction velocity, ... ORPHA:600
Desminopathy
Axial muscle weakness, Fatigable weakness of bulbar muscles, Progressive muscle weakness, Fatigab... ORPHA:98909
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Fasciculations, Degeneration of anterior horn cells, Degeneration of the... OMIM:105400
Episodic Ataxia With Slurred Speech
Muscle weakness, Slurred speech, Gait ataxia, Tremor ORPHA:401953
Pontocerebellar Hypoplasia, Type 4
Gliosis, Cerebellar hypoplasia, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar ... OMIM:225753
Myopathy, Myofibrillar, 2
Foot dorsiflexor weakness, Muscle fiber splitting, Limb-girdle muscle weakness, Muscular dystroph... OMIM:608810
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Minicore myopathy, Multiple joint contractures, Increased variability in muscle fiber diameter, E... ORPHA:486815
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Cerebral atrophy, Peripheral demyelination, Ataxia, Axonal degene... OMIM:604168
Myopathy, Myofibrillar, 8
Achilles tendon contracture, Frequent falls, Scapular winging, Nemaline bodies, Gowers sign, Gene... OMIM:617258
Adult-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Lower limb muscle weakness, Bradykinesia, Increased variabi... ORPHA:171442
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Amyotrophic Lateral Sclerosis 9
Distal muscle weakness, Amyotrophic lateral sclerosis, Spasticity, Distal amyotrophy OMIM:611895
Autosomal Dominant Spastic Paraplegia Type 38
Progressive spastic paraplegia, Thenar muscle weakness, First dorsal interossei muscle atrophy, F... ORPHA:171617
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Skeletal muscle atrophy, Involuntary movements, Increased variability ... ORPHA:238329
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Diaphragmatic weakness, Abnormal motor nerve conduction velocity, Camptodactyly of finger, Muscle... OMIM:614399
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Flexion contracture, Vocal cord paresis, Onion bulb formation, Decreased number of peripheral mye... OMIM:607706
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Parkinsonism, Dystonia, Scapular winging, Cerebellar atro... OMIM:614298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Gowers sign, Increased variability in muscle fiber diameter, Musc... OMIM:612937
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Dystonia, Oculogyric crisis, Inability to walk, Tremor, Diffuse cerebral atro... ORPHA:330050
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Scapular winging, Flexion contracture, Slender build, Fatigable weakness of bulb... ORPHA:171439
X-Linked Progressive Cerebellar Ataxia
Axonal loss, Dysmetria, Foot dorsiflexor weakness, Spinocerebellar tract degeneration, Frequent f... ORPHA:1175
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Muscle weakness, Respiratory insufficiency due to muscle weakness, Spast... OMIM:612069
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Muscle weakness, Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Congenital muscular dystrophy, Skeletal muscle atrophy, Increased variability in muscle fiber dia... OMIM:613204
Acute Peripheral Arterial Occlusion
Impaired distal tactile sensation, Paresthesia, Paralysis, Limb muscle weakness ORPHA:90064
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Pr... OMIM:619566
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Cerebellar atrophy, Paralysis, Skeletal muscle atrophy, Knee flexion contractur... OMIM:616286
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Neck muscle weakness, Respiratory insufficiency due to muscle weakness, Muscular dystrophy, Centr... OMIM:617066
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Type 2 muscle fiber atrophy, Decreased size of nerve terminals, Fatigable weakness, Intermittent ... OMIM:601462
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Proximal muscle weakness in upper limbs, Increased variability in muscle fiber diameter, Hamstrin... ORPHA:206549
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Abnormality of the musculature of the upper limbs, Abnorm... ORPHA:98913
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in upper limbs, Abnormality of peripheral somatosensory evoked potential... ORPHA:466768
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Dystonia, Increased variability in muscle fiber diameter, Ataxia, Increased intramyocellular lipi... OMIM:619065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy OMIM:618992
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Weakness of long finger extensor muscles, Ragged-red muscle fibe... OMIM:160500
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Spastic gait, Generalized amyotrophy, Lower limb spasticity, Cere... ORPHA:401820
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Fasciculations, Muscle weakness, Spasticity, Amyotrophic lateral sclerosis OMIM:614808
Pontocerebellar Hypoplasia, Type 1A
Fasciculations, Degeneration of anterior horn cells, Ataxia, Muscle weakness, Spinal muscular atr... OMIM:607596
Roussy-Levy Hereditary Areflexic Dystasia
Action tremor, Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onio... OMIM:180800
Bethlem Myopathy 2
Flexion contracture, Scapular winging, Increased variability in muscle fiber diameter, Muscle wea... OMIM:616471
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Dystonia, Astrocytosis, Cerebral cortical atrophy, Gait disturbance, Neuronal loss in central ner... OMIM:600795
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Progressive muscle weakness, Proximal muscle weakne... ORPHA:98896
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Skeletal muscle atrophy, Spinal muscular atrophy, Bulbar palsy, Mus... ORPHA:254875
Moderate Multiminicore Disease With Hand Involvement
Axial muscle weakness, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Type 1 m... ORPHA:178145
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired vibration sensation in the lower limbs, Progressive cerebellar ataxia, Impaired distal p... ORPHA:137898
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Increased variability in muscle fiber diameter, Skeletal muscle fibrosis, Generalized muscle weak... ORPHA:34516
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Small for gestational age, Gowers sign, Arthrogryposis multiplex congenita, ... OMIM:618484
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Fatigable weakness of bulbar muscles, Fatigable weakness of swal... ORPHA:596
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy
Dysmetria, Paralysis, Limb fasciculations, Gait ataxia, Progressive cerebellar ataxia, Distal amy... OMIM:606183
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Sensory axonal neuropathy, Skeletal muscle atrophy, Limb muscle we... OMIM:607458
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebral atrophy, Cerebellar atrophy, Action tremor, Scapular winging, Sensory axonal neuropathy,... ORPHA:254886
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Frequent falls, Flexion cont... OMIM:160565
Myopathy, Spheroid Body
Skeletal muscle atrophy, Proximal amyotrophy, Muscle weakness, Distal muscle weakness, Myopathy, ... OMIM:182920
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Axonal loss, Paralysis, Dystonia, Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Bulbar palsy, Limb muscle weakness, Fatigable weakness, Respiratory ... OMIM:605809
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Skeletal muscle atrophy, Progressive muscle we... OMIM:252320
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Astrocytosis, Abnormality of mitochondrial metabolism, Ataxia, Gliosis, Neuro... OMIM:203700
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Cerebral atrophy, Peripheral demyelination, Caudate atrophy, Apraxia, Spasticity, Ba... OMIM:221770
Myasthenic Syndrome, Congenital, 6, Presynaptic
Type 2 muscle fiber atrophy, Bulbar palsy, Fatigable weakness, Respiratory insufficiency due to m... OMIM:254210
Mitochondrial Complex Iv Deficiency, Nuclear Type 18
Muscle weakness, Weakness of facial musculature, Increased intramyocellular lipid droplets OMIM:619062
Myopathy, X-Linked, With Postural Muscle Atrophy
Proximal muscle weakness, Flexion contracture, Scapular winging, Scapuloperoneal weakness, Rimmed... OMIM:300696
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Type 2 muscle fiber atrophy, Choreoathetosis, Generalized amyotrophy, Facial palsy, Demyelinating... OMIM:617519
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Foot dorsiflexor weakness, Ataxia, Distal muscle weakness, Gait at... OMIM:618387
Glycogen Storage Disease Xiii
Increased muscle glycogen content OMIM:612932
Subacute Inflammatory Demyelinating Polyneuropathy
Muscle weakness, Positive Romberg sign, Tremor, Somatic sensory dysfunction, Peripheral demyelina... ORPHA:206594
Glut1 Deficiency Syndrome 1
Paralysis, Choreoathetosis, Ataxia, Spasticity, Hemiparesis, Paroxysmal dystonia, Babinski sign, ... OMIM:606777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Increased variability in muscle fiber diameter, Muscular dystrophy, EMG: ... OMIM:253601
Polyglucosan Body Neuropathy, Adult Form
Tetraparesis, Orthostatic hypotension, Spastic paraplegia, Paresthesia, Distal sensory impairment... OMIM:263570
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Infantile Refsum Disease
Progressive muscle weakness, Ataxia, Failure to thrive, Spasticity, Facial palsy, Optic atrophy ORPHA:772
Adrenomyeloneuropathy
Leg muscle stiffness, Cerebral dysmyelination, Atrophy of the spinal cord, Spastic gait, Peripher... ORPHA:139399
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb amyotrophy, Spastic gait, Lower limb muscle weakness, ... ORPHA:171863
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in upper limbs, Cervical spinal cord atrophy, Optic nerve hypoplasia, Po... ORPHA:101085
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Progressive muscle weakness, Centrally nucleated skeletal muscle fibers, Skeleta... OMIM:619518
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Gowers sign, Muscle fiber splitting, Muscular dystrophy, Bulbar palsy, Facia... OMIM:603511
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Bulbar palsy, Cerebral cortical atrophy, Babinski sign, Proximal muscle wea... OMIM:615911
Classic Glucose Transporter Type 1 Deficiency Syndrome
Paralysis, Extrapyramidal dyskinesia, Choreoathetosis, Dystonia, Apraxia, Ataxia, Spasticity, Hem... ORPHA:71277
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Astrocytosis, Ataxia, Gliosis, Neuronal loss in central nervous system ORPHA:204
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Somatic sensory dysfunction, Shuffling gait, Global brain atrophy, Corpus callosum atrophy, Gait ... OMIM:221820
Amyotrophy, Hereditary Neuralgic
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Muscle weakness, Br... OMIM:162100
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Combined Oxidative Phosphorylation Deficiency 38
Abnormal mitochondrial morphology, Decreased activity of mitochondrial complex IV OMIM:618378
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Muscle fiber splitting, Proximal amyotrophy, Myopathy, Abdominal wall muscle we... OMIM:618129
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Flexion contracture, Increased variability in muscle fiber diameter, Respiratory ... OMIM:300718
Myopathy, Distal, 3
Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness, Distal amyotrophy, Late... OMIM:610099
Myopathy, Proximal, With Ophthalmoplegia
Scapular winging, Neck muscle weakness, Distal muscle weakness, Muscle fiber inclusion bodies, My... OMIM:605637
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Flexion contracture, Diaphragmatic weakness, Increased endomysial connective tiss... ORPHA:75840
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Increased intramyocellular lipid droplets, P... OMIM:612016
Merrf
Ragged-red muscle fibers, Myopathy, Ataxia ORPHA:551
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Gait ataxia, Tremor ORPHA:423296
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Distal muscle weakness, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Benign Samaritan Congenital Myopathy
Fasciculations, Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle ... ORPHA:324581
Combined Oxidative Phosphorylation Deficiency 14
Cerebral atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Diffuse cereb... OMIM:614946
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, EMG: myopathic abnormalities, Generalized muscle weakness, Progressive ... OMIM:609283
Primary Lateral Sclerosis
Atrophy of the spinal cord, Spastic gait, Cervical spinal cord atrophy, Spastic dysarthria, Weakn... ORPHA:35689
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb muscle weakness, Generalized amyotrophy, Spastic paraple... OMIM:601162
Roussy-Lévy Syndrome
Somatic sensory dysfunction, Frequent falls, Impaired vibratory sensation, Skeletal muscle atroph... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Foot dorsiflexor weakness, Ankle flexion contracture, Peripheral axonal neuropathy, Distal sensor... OMIM:616668
Nemaline Myopathy 7
Minicore myopathy, Frequent falls, Nemaline bodies, Gowers sign, Limb muscle weakness, Muscle wea... OMIM:610687
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy, Spasticity, Hemiplegia, Abnormality of... OMIM:614561
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Fasciculations, Amyotrophic lateral sclerosis, Proximal ... OMIM:608030
Spinocerebellar Ataxia Type 21
Cerebellar vermis atrophy, Akinesia, Gait ataxia, Progressive cerebellar ataxia, Tremor ORPHA:98773
Neurodegeneration With Brain Iron Accumulation 2A
Cerebral atrophy, Cerebellar atrophy, Ataxia, Unsteady gait, Neurodegeneration, Gliosis, Neuronal... OMIM:256600
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Sensory axonal neuropathy, Impaired pain sensation, Spastic parap... ORPHA:139578
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles, Calf ... OMIM:617760
Oculopharyngeal Muscular Dystrophy
Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Ophthalmoplegia, Abnormal muscle fiber morph... ORPHA:270
Mitochondrial Complex Iv Deficiency, Nuclear Type 11
Choreoathetosis, Dilated fourth ventricle, Cerebellar vermis atrophy, Ataxia, Limb dystonia, Tort... OMIM:619054
Huntington Disease-Like 1
Cerebellar atrophy, Dysmetria, Gait ataxia, Cerebral cortical atrophy, Chorea, Gait disturbance, ... ORPHA:157941
Spinocerebellar Ataxia Type 2
Abnormality of the spinocerebellar tracts, Kinetic tremor, Supranuclear ophthalmoplegia, Parkinso... ORPHA:98756
Nemaline Myopathy 1
Nemaline bodies, Flexion contracture, Shoulder girdle muscle atrophy, Facial diplegia, EMG: myopa... OMIM:609284
Spastic Paraplegia 50, Autosomal Recessive
Gliosis, Cerebellar atrophy OMIM:612936
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Frequent falls, Gowers sign, Increased endomysial connective tissue,... ORPHA:353
Dystonia-Aphonia Syndrome
Cerebral atrophy, Cerebellar atrophy, Generalized dystonia, Unsteady gait, Abnormal mitochondrial... ORPHA:412217
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Lower limb muscle weakness, Muscular dystrophy, ... OMIM:254130
Pelizaeus-Merzbacher Disease, Connatal Form
Cerebellar hypoplasia, Inability to walk, Ataxia, Dystonic gait, Gliosis, Titubation, Difficulty ... ORPHA:280210
Inherited Creutzfeldt-Jakob Disease
Central nervous system degeneration, Astrocytosis, Global brain atrophy, Senile plaques, Progress... ORPHA:282166
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Respiratory insufficiency due to muscle weakness, Progressive muscle weakness,... OMIM:613561
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Limb fasciculations, Lower... ORPHA:90117
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Senile plaques, Apraxia, Temporal cortical ... ORPHA:100070
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Lower limb amyotrophy, Spastic gait, Impaired proprioception, Low... ORPHA:100999
Porphyria, Acute Hepatic
Paresthesia, Failure to thrive, Respiratory paralysis, Paralysis OMIM:612740
Mitochondrial Myopathy, Infantile, Transient
Muscle fiber hypertrophy, Ragged-red muscle fibers, Increased muscle lipid content, Macroglossia,... OMIM:500009
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Failure to thrive, Weakness of facial muscul... OMIM:619542
Autosomal Dominant Spastic Paraplegia Type 8
Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, Peroneal muscle atrophy... ORPHA:100989
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Decreased body weight, Respiratory insufficiency due to muscle weakness, Myopathy, Type 1 fibers ... OMIM:300580
Autosomal Recessive Spastic Paraplegia Type 57
Abnormality of the Achilles tendon, Spastic paraplegia, Spasticity, Distal lower limb amyotrophy,... ORPHA:431329
Nemaline Myopathy 4
Nemaline bodies, Scapular winging, Flexion contracture, Gowers sign, Skeletal muscle atrophy, Lim... OMIM:609285
Nemaline Myopathy 6
Nemaline bodies, Neck flexor weakness, Myopathy, Limb muscle weakness OMIM:609273
Nemaline Myopathy 3
Frequent falls, Nemaline bodies, Slender build, EMG: myopathic abnormalities, Bulbar palsy, Limb ... OMIM:161800
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Cerebellar atrophy, Progressive muscle weakness, Ragged-red muscle fibers OMIM:607426
Hsd10 Mitochondrial Disease
Choreoathetosis, Cerebral cortical atrophy, Abnormal mitochondrial morphology OMIM:300438
Synaptic Congenital Myasthenic Syndromes
Axial muscle weakness, Muscle weakness, Generalized muscle weakness, Scapular winging, Proximal m... ORPHA:98915
Dna2-Related Mitochondrial Dna Deletion Syndrome
Decreased mitochondrial number, Difficulty walking, Gait disturbance ORPHA:352470
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Flexion contracture, Increased endomysial connective tissue, Muscular dystrophy, Ankle flexion co... OMIM:617072
Hereditary Continuous Muscle Fiber Activity
Spastic gait, Ataxia, Congenital diaphragmatic hernia, Type 1 muscle fiber predominance, Slurred ... ORPHA:972
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Muscle weakness, Progressive cerebellar ataxia, Paraparesis, CNS demyeli... ORPHA:99
Triosephosphate Isomerase Deficiency
Cerebral atrophy, Dystonia, Skeletal muscle atrophy, Progressive muscle weakness, Muscle weakness... OMIM:615512
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy ORPHA:1878
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Left ventricular noncompaction, Dystonia, Flexion contracture, Ragged-red muscle fibers, Ataxia, ... OMIM:252011
Autosomal Dominant Spastic Paraplegia Type 37
Progressive spastic paraplegia, Spastic gait, Lower limb muscle weakness, Lower limb spasticity, ... ORPHA:171612
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Machado-Joseph Disease Type 1
Supranuclear ophthalmoplegia, Spinocerebellar tract degeneration, Dystonia, Abnormal pyramidal si... ORPHA:276238
Machado-Joseph Disease Type 2
Supranuclear ophthalmoplegia, Spinocerebellar tract degeneration, Dystonia, Abnormal pyramidal si... ORPHA:276241
Immunoneurologic Disorder, X-Linked
Neonatal death, Progressive proximal muscle weakness, Spastic paraplegia, Small for gestational age OMIM:300076
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Impaired proprioception, Impaired vibratory sensat... OMIM:500013
Dpm3-Cdg
Pelvic girdle muscle weakness, Muscular dystrophy, Muscle weakness, Babinski sign, Rimmed vacuole... ORPHA:263494
Poliomyelitis
Paralysis, Abnormal motor nerve conduction velocity, Abnormal skeletal muscle morphology, Skeleta... ORPHA:2912
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Cerebral atrophy, Ataxia, External ophthalmoplegia, Distal muscle weakness, Weakness of facial mu... OMIM:618637
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Distal muscle weakness, Peripheral axonal neur... OMIM:617070
Machado-Joseph Disease
Cerebellar atrophy, Dystonia, Dilated fourth ventricle, Impaired vibratory sensation, Ataxia, Pro... OMIM:109150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb muscle weakness, P... OMIM:616812
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Lower limb muscle weakness, Increased variability in muscle... ORPHA:397744
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Impaired pain sensation, Ataxia, Decreased nerve conduction velocity, Di... ORPHA:101078
Myasthenic Syndrome, Congenital, 14
Flexion contracture, Gowers sign, Limb-girdle muscle weakness, Ragged-red muscle fibers, Fatigabl... OMIM:616228
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Increased variability in muscle fiber diameter, Ataxia, Abnormal auditory evoked potentials, Myop... OMIM:125250
Congenital Multicore Myopathy With External Ophthalmoplegia
Muscle fiber hypertrophy, Nemaline bodies, Flexion contracture, Axial muscle weakness, Abnormal s... ORPHA:98905
Glycogen Storage Disease Ixb
Muscle weakness, Increased muscle glycogen content OMIM:261750
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gliosis, Cerebellar dysplasia, Tremor, Gait disturbance ORPHA:457240
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb muscle weakness, Spastic paraplegia, Impaired vibration sensation in the... OMIM:600363
Spinocerebellar Ataxia 21
Cerebellar atrophy, Dystonia, Intention tremor, Ataxia, Akinesia, Progressive cerebellar ataxia, ... OMIM:607454
Intellectual Developmental Disorder, X-Linked 12
Tremor, Abnormal cerebellum morphology, Gait disturbance, Gliosis, Cerebellar vermis hypoplasia OMIM:300957
Congenital Neuronal Ceroid Lipofuscinosis
Gliosis, Cerebellar hypoplasia, Cerebellar atrophy, Abnormal astrocyte morphology ORPHA:168486
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance ORPHA:275864
Charcot-Marie-Tooth Disease Type 4D
Lower limb amyotrophy, Somatic sensory dysfunction, Decreased amplitude of sensory action potenti... ORPHA:99950
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Paucity of anterior horn motor neurons, Arthrogryposis multiplex congeni... OMIM:253310
Spinocerebellar Ataxia, X-Linked 3
Cerebellar atrophy, Dysmetria, Intention tremor, Head titubation, Gliosis, Neuronal loss in centr... OMIM:301790
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Impaired proprioception, Spastic dysart... ORPHA:251282
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells, Astrocytosis OMIM:600333
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Proximal muscle weakness, Impaired vibratory sensation, Ragged-red muscle fibers, Atrophy/Degener... ORPHA:70595
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Astrocytosis OMIM:172500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Dystonia, Basal ganglia gliosis, Cerebellar cyst, Inability to walk, Ataxia, Ce... ORPHA:79243
Cerebrotendinous Xanthomatosis
Dystonia, Global brain atrophy, Paraparesis, CNS demyelination, Abnormality of extrapyramidal mot... ORPHA:909
Leukoencephalopathy with metaphyseal chondrodysplasia
Diffuse cerebral atrophy, Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Muscle weakness, Tongue fasciculations, Amyotrophic lateral sclerosis OMIM:613435
Microcephaly 10, Primary, Autosomal Recessive
Gliosis, Cerebral atrophy, Cerebellar atrophy OMIM:615095
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Large for gestational age, Proximal muscle weakness in l... ORPHA:169189
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Scapular winging, Multiple joint contractures, EMG: myopathic abnormalities, T... ORPHA:424107
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscle weakness, Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Generalized limb muscle atrophy, Progressive muscle weakness OMIM:600462
Spinal Muscular Atrophy, X-Linked 2
Flexion contracture, Multiple joint contractures, Degeneration of anterior horn cells, Respirator... OMIM:301830
Spinocerebellar Ataxia Type 3
Abnormal pyramidal sign, Dystonia, Skeletal muscle atrophy, Vocal cord paralysis, Progressive cer... ORPHA:98757
Pontocerebellar Hypoplasia, Type 2A
Opisthotonus, Cerebellar hypoplasia, Hypoplasia of the pons, Cerebral cortical atrophy, Gliosis OMIM:277470
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Gliosis, Abnormal cerebellum morphology, Ataxia, Corpus callosum atrophy OMIM:169500
Japanese Encephalitis
Dystonia, Opisthotonus, Distal upper limb muscle weakness, Cogwheel rigidity, Respiratory paralys... ORPHA:79139
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Congenital muscular dystrophy, Slender build, Muscle fiber necrosis, General... OMIM:254090
Spinocerebellar Ataxia 1
Spinocerebellar atrophy, Muscle weakness, Progressive cerebellar ataxia, Proximal muscle weakness... OMIM:164400
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Flexion contracture, Ataxia, Progressive muscle weakness, Muscle weakness, Ne... OMIM:615919
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Cerebral atrophy, Limb-girdle muscular dystrophy, Myopathy, Progressive proximal muscle weakness,... ORPHA:369847
Adult-Onset Distal Myopathy Due To Vcp Mutation
Weakness of the intrinsic hand muscles, Foot dorsiflexor weakness, Frequent falls, Parkinsonism, ... ORPHA:329478
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Neurodegeneration, Tremor OMIM:615889
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia, Spasticity, Tremor ORPHA:217012
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Frequent falls, Abnormality of the Achilles tendon, Reduced muscle fiber alpha dystroglycan, Musc... ORPHA:34515
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Intercostal muscle weakness, Generalized muscle weakness, Flexion co... ORPHA:2020
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Ataxia, Progressive external ophthalmoplegia, ... ORPHA:480
O'Sullivan-Mcleod Syndrome
Atrophy of the spinal cord, Intrinsic hand muscle atrophy, Fasciculations, Hand muscle weakness, ... ORPHA:99965
Combined Oxidative Phosphorylation Defect Type 13
Type 2 muscle fiber atrophy, Choreoathetosis, Ankle flexion contracture, Limb dystonia, Decreased... ORPHA:319514
Neutral Lipid Storage Disease With Myopathy
Gowers sign, Fasciculations, Neck muscle weakness, Myopathy, Increased muscle lipid content, Prox... OMIM:610717
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Skeletal muscle atrophy, Ataxia, Abnormal autonomic nervous sy... ORPHA:97229
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Flexion contracture, Axial muscle weakness, Type 1 and type 2 muscle fiber min... OMIM:602771
Barth Syndrome
Abnormal mitochondrial morphology, Gait disturbance OMIM:302060
Spastic Ataxia 5, Autosomal Recessive
Dysmetria, Dystonia, Skeletal muscle atrophy, Increased intramyocellular lipid droplets, Spastic ... OMIM:614487
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Flexion contracture, Congenital muscular dystrophy, Increased endomysial connective tissue, Muscl... OMIM:607855
L-2-Hydroxyglutaric Aciduria
Gliosis, Global brain atrophy, Cerebellar atrophy, Corpus callosum atrophy OMIM:236792
Secondary Syringomyelia
Somatic sensory dysfunction, Syringomyelia, Hyperintensity of MRI T2 signal of the spinal cord, S... ORPHA:99857
Developmental And Epileptic Encephalopathy 14
Gliosis, Neuronal loss in central nervous system, Cerebral cortical atrophy OMIM:614959
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Lower limb amyotrophy, Spastic gait, Lower limb spasticity, Hand ... ORPHA:320355
Behr Syndrome
Achilles tendon contracture, Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Hamst... OMIM:210000
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Muscle weakness, Paraparesis... ORPHA:99014
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Lower limb spasticity, Cerebral ... ORPHA:401830
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Cerebellar hypoplasia OMIM:214150
Combined Oxidative Phosphorylation Deficiency 45
Muscle weakness, Failure to thrive, Ataxia, Tremor OMIM:618951
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Type 2 muscle fiber atrophy, Decreased size of nerve terminals, Gowers sign, Skeletal muscle atro... OMIM:608931
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Abnormal nerve conduction velocity, Ataxia, Distal upper limb amyotrophy... ORPHA:101075
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Abnormal mitochondrial morphology OMIM:618528
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy OMIM:609500
Peroxisome Biogenesis Disorder 11B
Muscle weakness, Progressive muscle weakness OMIM:614885
Hypokalemic Periodic Paralysis, Type 2
Episodic flaccid weakness, Periodic paralysis, Myopathy OMIM:613345
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Distal amyotrophy, Ataxia, Tremor OMIM:619099
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Frequent falls, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Inability to walk, Difficulty walking, Astrocytosis OMIM:611087
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Limb-girdle muscular dystrophy, Muscular dystrophy, Myopathy, Chorea, Truncal ataxia, Proximal mu... ORPHA:369840
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Ataxia, Gait ataxia, Abnormal mitochondrial shape, Diffuse cerebral atrophy, ... ORPHA:543470
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Progressive muscle weakness, Limb muscle weakness, Failure to thrive, Progres... OMIM:610131
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Poor head control, Decreased miniature endplate potentials... OMIM:616321
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Flexion contracture, Failure to thrive in infancy, Axial dystonia, Increased variability in muscl... OMIM:619026
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Gait ataxia, Neur... OMIM:610245
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Hand tremor, Frequent falls, Chronic axonal neuropathy, Skeletal muscle atrophy, Impaired distal ... OMIM:162400
Scapuloperoneal Spinal Muscular Atrophy
Diaphragmatic weakness, Gowers sign, Muscle fiber splitting, Scapuloperoneal amyotrophy, Peroneal... OMIM:181405
Amyotrophic Lateral Sclerosis 19
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:615515
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormality of mitochondrial metabolism, Cerebral cortical atrophy, Gait disturbance, Aplasia/Hyp... ORPHA:1192
Myopathy, Myofibrillar, 7
Achilles tendon contracture, Foot dorsiflexor weakness, Flexion contracture, Nemaline bodies, Mul... OMIM:617114
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Cap Myopathy
Lower limb amyotrophy, Frequent falls, Gowers sign, Lower limb muscle weakness, Generalized amyot... ORPHA:171881
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Gliosis, Cerebral atrophy, Distal sensory impairment, Neuronal loss in central nervous system OMIM:604218
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebral atrophy, Cerebellar atrophy, Parkinsonism, Dystonia, Multiple joint contractures, Oroman... ORPHA:521406
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Foot dorsiflexor weakness, Flexion contracture, Nemaline bodies, Hypotrophy of the small hand mus... OMIM:607684
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Axonal loss, Flexion contracture, Skeletal muscle atrophy, Increased variability in muscle fiber ... OMIM:616867
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Tremor OMIM:615945
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Type 2 muscle fiber predominance, M... OMIM:619028
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Spastic tetraparesis, Paralysis, Dystonia, Abnormal pyramidal sign, Neurodegene... OMIM:272750
Spinocerebellar Ataxia 2
Dysmetria, Action tremor, Spinocerebellar tract degeneration, Impaired vibratory sensation, Parki... OMIM:183090
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Failure to thrive, Poor head control, Myoclonus, Tremor OMIM:619651
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Autosomal Dominant Spastic Paraplegia Type 12
Progressive spastic paraplegia, Lower limb amyotrophy, Spastic gait, Impaired proprioception, Low... ORPHA:100993
Typical Nemaline Myopathy
Foot dorsiflexor weakness, Flexion contracture, Axial muscle weakness, Nemaline bodies, Limb-gird... ORPHA:171436
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Abnormality of the Achilles tendon, Cerebellar vermis atrophy, Gait ... ORPHA:98763
Spongiform Encephalopathy With Neuropsychiatric Features
Gliosis OMIM:606688
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Ataxia, Cerebral cortical atrop... OMIM:617862
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Shuffling gait, Intention tremor, Cerebellar cortical atrophy, Akinesia, Ataxia, ... ORPHA:247234
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, Inability to walk, Akines... ORPHA:391411
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Muscle weakness, Progressive proximal muscle weakness, I... ORPHA:368
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Generalized dystonia, Focal dystonia, Motor stereotypy... ORPHA:98807
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Leber Hereditary Optic Neuropathy
Postural tremor, Ataxia, Mitochondrial respiratory chain defects ORPHA:104
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Poor head control, Tremor OMIM:619561
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, External ophthalmoplegia, Limb ataxia, Spasticity, Truncal ataxia, Ba... OMIM:615768
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Hypomimic fa... OMIM:260300
Familial Cervical Artery Dissection
Paresthesia, Facial palsy, Paralysis ORPHA:36382
Autosomal Recessive Spastic Paraplegia Type 70
Progressive spastic paraplegia, Abnormal myelination, Hand tremor, Lower limb spasticity ORPHA:401835
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Impaired ... OMIM:128230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Limb-girdle muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Macroglossia, Muscle wea... OMIM:616052
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysmetria, Somatic sensory dysfunction, Gowers sign, Increased intramyocellular lipid droplets, I... ORPHA:502423
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Cerebellar atrophy, Dysmetria, Dystonia, Lower limb muscle weakness, Spastic dysarthria, Spastic ... ORPHA:313772
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Rhabdomyolysis, Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness... ORPHA:370
Oculopharyngodistal Myopathy 1
Foot dorsiflexor weakness, Increased variability in muscle fiber diameter, EMG: myopathic abnorma... OMIM:164310
Tick-Borne Encephalitis
Incoordination, Somatic sensory dysfunction, Abnormal cranial nerve morphology, Paralysis, Skelet... ORPHA:297
Arnold-Chiari Malformation Type I
Somatic sensory dysfunction, Syringomyelia, Vocal cord paralysis, Abnormality of the musculature ... ORPHA:268882
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Cerebral atrophy, Gowers sign, Ragged-red muscle fibers, Generalized amyotrophy, EMG: myopathic a... OMIM:609560
Lissencephaly Type Iii And Bone Dysplasia
Central nervous system degeneration, Agenesis of cerebellar vermis, Neuronal loss in central nerv... OMIM:601160
Allan-Herndon-Dudley Syndrome
Abnormal pyramidal sign, Dystonia, Choreoathetosis, Spastic tetraplegia, Flexion contracture, Ske... ORPHA:59
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Cerebellar atrophy, Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Increased ne... ORPHA:79263
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Gliosis OMIM:615119
Combined Oxidative Phosphorylation Defect Type 27
Tetraparesis, Ragged-red muscle fibers, Involuntary movements, Diffuse cerebral atrophy, Upper li... ORPHA:477774
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Small for gestational age, Decreased nerve conduction velocity, Centrally nu... OMIM:615368
Posterior Column Ataxia With Retinitis Pigmentosa
Peripheral demyelination, Impaired proprioception, Hyperintensity of MRI T2 signal of the spinal ... OMIM:609033
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Tremor, Limb dystonia, Upp... ORPHA:216873
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Cerebellar atrophy ORPHA:352447
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Hereditary Neuropathy With Liability To Pressure Palsies
Paresthesia, Vocal cord paralysis ORPHA:640
Combined Oxidative Phosphorylation Deficiency 29
Cerebellar atrophy, Dystonia, Global brain atrophy, Optic neuropathy, Axonal degeneration, Delaye... OMIM:616811
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Diffuse cerebral atrophy, Babinski sign, Abnormality of extrapyramida... OMIM:615362
Mitochondrial Neurogastrointestinal Encephalomyopathy
Foot dorsiflexor weakness, Abnormality of the extraocular muscles, Decreased number of large peri... ORPHA:298
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Facial myokymia, Head... OMIM:604326
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Muscle weakness, Rigidity, Diffuse cerebral atrophy, Babinski sign, Postu... ORPHA:314632
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Gowers sign, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystr... OMIM:613818
Central Core Disease
Nemaline bodies, Multiple joint contractures, Type 1 muscle fiber predominance, Respiratory insuf... ORPHA:597
Rabies
Vocal cord paresis, Cerebral palsy, Paresthesia ORPHA:770
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Involuntary movements, Limb hypertonia, Ataxia, Failure to thrive, Rigidity, Po... ORPHA:442835
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Diaphragmatic weakness, Vocal cord paralysis, External ophthalmoplegia, Atax... OMIM:211530
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebral atrophy, Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Rigidit... OMIM:300423
Caribbean Parkinsonism
Orthostatic hypotension, Action tremor, Dystonia, Parkinsonism, Autonomic bladder dysfunction, Ap... ORPHA:97355
Hemimegalencephaly
Gliosis, Abnormal neuron morphology ORPHA:99802
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Peripheral axonal degeneration, Orthostatic hypotension, Axonal degeneration, Decreased number of... OMIM:608720
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Hypertonia, Dysmetria, Flexion contracture, Cerebellar atrophy, Intention tremor, Ataxia, Muscle ... OMIM:616505
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Macroglossia, Muscle weakness, Myopathy, Increased muscle glycogen cont... ORPHA:254864
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Abnormal pyramidal sign, Dysmetria, Peripheral demyelination, Frequent falls, C... ORPHA:397946
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Obesity, Ataxia, Optic atrophy, Tremor OMIM:614947
Hypotonia, Infantile, With Psychomotor Retardation
Respiratory insufficiency due to muscle weakness, Increased variability in muscle fiber diameter,... OMIM:616816
Neurodevelopmental Disorder With Spasticity And Poor Growth
Flexion contracture, Intention tremor, Failure to thrive, Spasticity, Poor head control, Clonus, ... OMIM:618076
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Delayed CNS myelination, Spasticity, Cerebral cortical atrophy, Optic atrophy, Tremor OMIM:300983
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, EMG: myopathic abnormalities OMIM:600334
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Cerebellar hypoplasia, Diffuse cerebral atrophy, Head titubation, Gliosis ORPHA:3240
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Cerebral atrophy, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Neuronal l... OMIM:615924
Horner Syndrome, Congenital
Paralysis OMIM:143000
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Leukodystrophy, Rigidity, Spasticity, Cere... OMIM:612438
Combined Oxidative Phosphorylation Deficiency 24
Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Neurodegeneration OMIM:616239
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Proximal muscle weakness, Vocal cord paresis, Limb muscle weakness, Distal muscle weakness, Axona... OMIM:601152
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Adult-Onset Autosomal Dominant Leukodystrophy
Atrophy of the spinal cord, Action tremor, Orthostatic hypotension, Muscle weakness, Clonus, Trem... ORPHA:99027
Leukoencephalopathy With Vanishing White Matter
Gliosis, Gait disturbance, Unsteady gait OMIM:603896
Combined Oxidative Phosphorylation Defect Type 29
Myoclonic spasms, Global brain atrophy, Optic neuropathy, Poor coordination, Abnormal autonomic n... ORPHA:478029
Leigh Syndrome
Decreased activity of mitochondrial complex I, Cerebellar atrophy, Decreased activity of mitochon... ORPHA:506
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, Skeletal muscle atrophy, Onion bulb formation, Limb muscle weakness, Decreas... OMIM:218000
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Parkinsonism, Peroneal muscle atrophy, Degeneration of ante... OMIM:118301
Dk1-Cdg
Failure to thrive, Progressive muscle weakness ORPHA:91131
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Dystonia, Ragged-red muscle fibers, Bradykinesia, Failure to thrive, Ophtha... OMIM:614924
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Neuroectodermal Melanolysosomal Disease
Hypertonia, Cerebral cortical hemiatrophy, Ataxia, Rigidity, Spasticity, Cerebral cortical atroph... ORPHA:33445
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Cogwheel rigi... ORPHA:363710