Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SCY1-like 1 (S. cerevisiae)
Synonyms:
mdf,  mfd,  2810011O19Rik,  p105,  Ntkl

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 Scyl1 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 Scyl1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Frequent falls, Limb ataxia, Skeletal muscle atrophy, Tremor, Gait ataxia, Cerebellar... OMIM:616719
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Spasticity, Frequent falls, Progressive cerebellar ataxia, Distal lower limb muscle weakness, Gai... ORPHA:466794

The table below shows human diseases predicted to be associated to Scyl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Posterior Column Ataxia
Impaired vibratory sensation, Impaired proprioception, Ataxia OMIM:176250
Spinocerebellar Ataxia, X-Linked 2
Abnormality of extrapyramidal motor function, Ataxia OMIM:302600
Spinal Muscular Atrophy, Type Iv
Quadriceps muscle atrophy, Tongue fasciculations, Proximal amyotrophy, Spinal muscular atrophy, H... OMIM:271150
Ataxia-Oculomotor Apraxia Type 1
Gait disturbance, Ataxia ORPHA:1168
Spinal Muscular Atrophy, Type Iii
Spinal muscular atrophy, Shoulder girdle muscle weakness, Hand tremor, Lower limb muscle weakness... OMIM:253400
Episodic Ataxia Type 5
Truncal ataxia, Ataxia ORPHA:211067
Cerebellar Ataxia, Benign, With Thermoanalgesia
Impaired temperature sensation, Progressive cerebellar ataxia OMIM:212890
Spinocerebellar Ataxia Type 4
Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory sensation, Impaired tactile... ORPHA:98765
Neuronopathy, Distal Hereditary Motor, Type Viib
Distal amyotrophy, Hand muscle weakness, Lower limb muscle weakness, Weakness of facial musculatu... OMIM:607641
Atonic-Astatic Syndrome Of Foerster
Inability to walk, Ataxia, Abasia OMIM:209100
Amyotrophic Lateral Sclerosis 11
Upper motor neuron dysfunction, Skeletal muscle atrophy, Decreased nerve conduction velocity, Amy... OMIM:612577
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Tetraparesis, Proximal muscle weakness in lower limbs, Difficulty walking, Lower limb... OMIM:613954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Tetraparesis, Parkinsonism, Cerebral atrophy, Paraparesis, Apraxia, Abnormal lower motor neuron m... OMIM:105550
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Ataxia-Deafness-Retardation Syndrome
Ataxia OMIM:208850
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Basal lamina onion bulb formation, Intrinsic hand muscle atrophy, Difficulty walking, Distal amyo... OMIM:614895
Spinal Muscular Atrophy, Type Ii
Hand tremor, Spinal muscular atrophy, Skeletal muscle atrophy, Tongue fasciculations, Degeneratio... OMIM:253550
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Loss of ambulation, Rigidity, Dystonia, Spasticity, Gait disturbance, Ataxia, Upper... ORPHA:225154
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb muscle weakness, Loss of ambulation, Amyotrophic lateral sclerosis, Weakness of the in... OMIM:614373
Neuhauser-Eichner-Opitz Syndrome
Spasticity, Hypertonia, Rigidity, Ataxia ORPHA:2672
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Proximal amyotrophy, Amyotrophic lateral sclerosis, Fasc... OMIM:608030
Monomelic Amyotrophy
Tremor, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Fasciculations,... ORPHA:65684
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Tetraparesis, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atr... OMIM:617892
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Frequent falls, Hand tremor, Difficulty walking, Distal lower limb muscle weakness, Distal amyotr... OMIM:618279
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Fiber type grouping, Lower limb muscle weakness, Type 1 muscle fiber predominance, Distal amyotro... OMIM:608340
Spastic Paraplegia 72, Autosomal Recessive
Spasticity, Ataxia, Hoffmann sign, Tip-toe gait, Impaired vibration sensation in the lower limbs,... OMIM:615625
Amyotrophic Lateral Sclerosis 1
Spasticity, Pseudobulbar paralysis, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasci... OMIM:105400
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Spasticity, Amyotrophic lateral sclerosis OMIM:611895
Spinocerebellar Ataxia Type 23
Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Impaired proprio... ORPHA:101108
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Hand tremor, Gait disturbance, Decreased number of peripheral myelinated ner... OMIM:604484
Juvenile Primary Lateral Sclerosis
Spasticity, Abnormal pyramidal sign, Spastic dysarthria, Skeletal muscle atrophy, Abnormal upper ... ORPHA:247604
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Proximal amyotrophy, Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Muscular dy... OMIM:254110
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Distal amyotrophy, Steppage gait, Segmental peripheral demyelination, Thenar ... OMIM:606483
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Intrinsic hand muscle atrophy, Distal lower limb muscle weakness, Hand muscle weakness, Clusters ... ORPHA:101097
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Upper limb spasti... OMIM:205100
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Difficulty walking, Distal... OMIM:601954
Optic Atrophy 2
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis OMIM:311050
Roussy-Levy Hereditary Areflexic Dystasia
Distal amyotrophy, Hypertrophic nerve changes, Upper limb postural tremor, Decreased number of pe... OMIM:180800
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations OMIM:614808
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Distal amyotrophy, Rigidity, Tremor, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Tibial Muscular Dystrophy
Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Difficulty walking, Myopathy, C... ORPHA:609
Amyotrophic Lateral Sclerosis 5, Juvenile
Spasticity, Abnormal pyramidal sign, Distal amyotrophy, Abnormal lower motor neuron morphology, A... OMIM:602099
Amyotrophic Lateral Sclerosis 4, Juvenile
Difficulty walking, Clonus, Distal amyotrophy, Diffuse axonal swelling, Atrophy of the spinal cor... OMIM:602433
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Distal lower limb muscle weakness, Dis... ORPHA:497764
Spastic Paraplegia 57, Autosomal Recessive
Lower limb amyotrophy, Demyelinating motor neuropathy, Spastic paraplegia, Babinski sign, Optic a... OMIM:615658
Juvenile Amyotrophic Lateral Sclerosis
Inability to walk, CNS hypomyelination, Cachexia, Upper limb spasticity, Dystonia, Ataxia, Amyotr... ORPHA:300605
Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Demyelinating sensory neuropathy, Lower limb muscle weakness, Progressive gait ataxia, Symmetrica... ORPHA:208981
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Spinal muscular atrophy, Distal amyotrophy, Loss of ambulation, Tremor, Fasc... OMIM:182980
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Spinal muscular atrophy, Difficulty walking, Skeletal muscle atrophy, Progressive... OMIM:159950
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... OMIM:105500
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in lower limbs, Fiber type grouping, Weakness of facial musculature, Sca... OMIM:619733
Miyoshi Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Shoul... ORPHA:45448
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, Clumsiness, Steppage gait, EMG: myopathic abnormalities, R... OMIM:610099
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Amyotrophic lateral sclerosis, Paralysis, Athetosis OMIM:300857
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Upper motor neuron dysfunction, Motor axonal neuropathy, Abnormal long bone morphology, Sensory a... ORPHA:52430
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Spasticity, Distal amyotrophy, Babinski sign, Steppage gait, Peripheral axonal atrophy, Decreased... OMIM:609260
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Myopathy, Distal, With Rimmed Vacuoles
Steppage gait, Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial pa... OMIM:617158
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616437
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Difficulty walking, Central core regions in muscle fibers, Progressive extrapyramidal mov... ORPHA:401768
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Proximal muscle weakness in lower limbs, Myopathy, Loss of ambulation, Muscle fiber inclusion bod... OMIM:615424
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Distal amyotrophy, Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Spastic Paraplegia 38, Autosomal Dominant
Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle atrophy, Lower limb mus... OMIM:612335
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Steppage gait, Axonal regenerati... OMIM:615185
Autosomal Spastic Paraplegia Type 58
Fasciculations, Dysmetria, Spasticity, Torticollis, Cerebral atrophy, Chorea, Titubation, Short s... ORPHA:397946
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal amyotrophy, Steppage gait, Peripheral axonal atrophy, Peripheral axonal neuropathy, Decrea... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Steppage gait, Hypertrophic nerve changes, Decreased number of peripheral myel... OMIM:118200
Gne Myopathy
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... ORPHA:602
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Spinal muscular atrophy, Ataxia, Hand tremor, Distal amyotrophy, Demyelinating perip... OMIM:607596
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Lower limb muscle weakness, Upper limb muscle weakness, Spastic paraplegia... OMIM:617046
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies OMIM:615426
Hypertrophic Neuropathy Of Dejerine-Sottas
Distal lower limb muscle weakness, Distal amyotrophy, Steppage gait, Hypertrophic nerve changes, ... OMIM:145900
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in lower limbs, Inability to walk, Gait disturbance, Intrinsic hand musc... ORPHA:276435
Episodic Ataxia, Type 8
Episodic ataxia, Intention tremor, Slurred speech, Ataxia OMIM:616055
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Frequent falls, Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Muscula... ORPHA:34515
Peroxisome Biogenesis Disorder 8B
Loss of ambulation, Rigidity, Leukodystrophy, Dysmetria, Spasticity, Ataxia, Hypertonia, Brain at... OMIM:614877
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Spasticity, Abnormal pyramidal sign, Parkinsonism, Inability to walk, Cerebral atrophy, Ataxia, D... OMIM:617672
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Shoulder girdle muscle weakness, Falls, Myopathy, Shoulder girdle muscle atrophy, Type 1 muscle f... OMIM:608358
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Skeletal muscle atrophy, Tremor, Flexion contracture, Babinski sign OMIM:611105
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Lower limb amyotrophy, Proximal muscle w... ORPHA:482601
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Muscular dystrophy, Lower limb muscle weakness, Tip-toe gait, Deposits immunor... OMIM:254130
Spastic Paraplegia 55, Autosomal Recessive
Lower limb amyotrophy, Tibialis anterior muscle atrophy, Difficulty walking, Lower limb muscle we... OMIM:615035
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Claw hand deformity, Distal lower limb muscle weakness, Decreased m... OMIM:605285
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Abnormal lowe... ORPHA:95434
Autosomal Recessive Spastic Paraplegia Type 63
Spasticity, Skeletal muscle atrophy, Short stature, Scissor gait, Hypertonia ORPHA:401805
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Increased endo... OMIM:617760
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Proximal lower limb amyotrophy, Scapular winging, Facial palsy, Proximal upper limb amyotrophy, G... ORPHA:219
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Segmental peripheral demyelination/remyelination, Distal amyotrophy, Steppage gait, Hypertrophic ... OMIM:118220
Spastic Paraplegia 63, Autosomal Recessive
Clonus, Skeletal muscle atrophy, Scissor gait, Short stature, Spastic paraplegia, Babinski sign, ... OMIM:615686
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Loss of ambulation, ... OMIM:603511
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal amyotrophy, Clusters of axonal regeneration, Decreased number of peripheral myelinated ner... OMIM:607734
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Fasciculations, Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Spinal Muscular Atrophy, Jokela Type
Spinal muscular atrophy, Difficulty walking, Skeletal muscle atrophy, Tremor, Fasciculations, Cal... OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Distal amyotrophy, Steppage gait, Axonal regeneration, Decreased number of peripheral myelinated ... OMIM:607731
Autosomal Spastic Paraplegia Type 30
Distal sensory impairment, Somatic sensory dysfunction, Unsteady gait, Ataxia, Progressive spasti... ORPHA:101010
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Distal amyotrophy, Steppage gait, Decreased number of peripheral myelinated nerve fibers, Upper l... OMIM:607677
Congenital Muscular Dystrophy Without Intellectual Disability
Frequent falls, Reduced muscle fiber alpha dystroglycan, Proximal amyotrophy, Facial diplegia, Di... ORPHA:370980
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Spasticity, Abnormality of the Achilles tendon, Abnormal myelinatio... ORPHA:431329
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Gait disturbance, Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Z-ban... OMIM:618655
Autosomal Recessive Spastic Paraplegia Type 67
Progressive spastic paraplegia, Limb tremor, Abnormal myelination, Spastic gait, Babinski sign, G... ORPHA:401820
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Difficulty walking, Lower limb muscle weakness, Pelvic girdle amyotrophy, Hamstring contractures,... ORPHA:267
Charcot-Marie-Tooth Disease, Type 4H
Distal lower limb amyotrophy, Small thenar eminence, Unsteady gait, Distal lower limb muscle weak... OMIM:609311
Amyotrophic Lateral Sclerosis 8
Abnormal pyramidal sign, Proximal amyotrophy, Distal amyotrophy, Postural tremor, Skeletal muscle... OMIM:608627
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Loss of ambulation, Pelv... OMIM:604286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Proximal amyotrophy, Gait disturbance, Muscle fiber splitting, Myopathy, Fatty replacement of ske... OMIM:618129
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Frequent falls, Gait disturbance, Distal lower limb muscle weakness, Lower limb muscle weakness, ... OMIM:607684
Charcot-Marie-Tooth Disease Type 2B1
Inability to walk, Distal lower limb muscle weakness, Hand muscle weakness, Steppage gait, Cluste... ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Weakness of facial mu... OMIM:619566
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Foot dorsiflexor weakness, Onion bulb formation OMIM:616039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, Loss of ambulation, EMG: myo... OMIM:253601
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Babinski sign, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Polyglucosan Body Myopathy 2
Shoulder girdle muscle weakness, Difficulty walking, Hand muscle weakness, Pelvic girdle amyotrop... OMIM:616199
Spinocerebellar Ataxia 40
Unsteady gait, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, D... OMIM:616053
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Gait disturbance, Cerebral atrophy, Apraxia, Abnormal upper motor neuron morphology, ... OMIM:221770
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Unsteady gait, Distal lower limb muscle weakness, Gait ataxia... ORPHA:98916
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Unsteady gait, Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, A... OMIM:613818
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Difficulty walking, Distal amyotrophy, Abnormal lower motor neuron morph... OMIM:611067
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Spinocerebellar Ataxia 41
Gait ataxia, Unsteady gait, Ataxia OMIM:616410
Charcot-Marie-Tooth Disease, Type 4A
Inability to walk by childhood/adolescence, Basal lamina onion bulb formation, CNS hypomyelinatio... OMIM:214400
Marinesco-Sjogren Syndrome
Spasticity, Limb ataxia, Ataxia, Myopathy, Cerebellar cortical atrophy, Skeletal muscle atrophy, ... OMIM:248800
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Congenital hip dislocation, Type 1 muscle fiber predominance, Central core regions in muscle fibe... OMIM:117000
Congenital Myopathy 3 With Rigid Spine
Minicore myopathy, Type 1 muscle fiber predominance, Muscular dystrophy, Loss of ambulation, Shor... OMIM:602771
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Ataxia, Skeletal muscle atrophy, Peripheral demyelination, Axonal loss, Dystonia OMIM:616684
Subacute Inflammatory Demyelinating Polyneuropathy
Abnormality of the calf musculature, Frequent falls, Gait disturbance, Leukocytosis, Difficulty w... ORPHA:206594
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Motor neuron atrophy, Abnormal neuron morphology, Falls, Short stepped shuffling ga... ORPHA:412066
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Inability to walk, Gait di... ORPHA:101077
Tibial Muscular Dystrophy, Tardive
Muscular dystrophy, Steppage gait, Rimmed vacuoles, EMG: myopathic abnormalities OMIM:600334
Frontotemporal Dementia With Motor Neuron Disease
Tetraparesis, Parkinsonism, Global brain atrophy, Progressive cerebellar ataxia, Weakness due to ... ORPHA:275872
Neuronopathy, Distal Hereditary Motor, Type Va
Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle atrophy, Upper limb mus... OMIM:600794
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Frequent falls, Muscular dystrophy, Tip-toe gait, Scapular winging, Achilles tendon contracture, ... ORPHA:62
Spinocerebellar Ataxia, Autosomal Recessive 25
Babinski sign, Truncal ataxia, Ataxia, Dysmetria OMIM:617584
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Shoulder girdle muscle weakness, Autophagic vacuoles, Muscular dystrophy, EMG: myopathic abnormal... OMIM:608423
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign OMIM:612539
Hereditary Myopathy With Early Respiratory Failure
Gait disturbance, Muscle fiber splitting, Falls, Type 1 muscle fiber predominance, Necrotizing my... ORPHA:178464
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Inability to walk, Cerebral atrophy, Facial diplegia, Pau... OMIM:611890
Tremor Of Intention, Ataxia, And Lipofuscinosis
Intention tremor, Ataxia OMIM:190200
Primary Lateral Sclerosis, Juvenile
Spastic gait, Spastic dysarthria, Pseudobulbar paralysis, Spasticity of pharyngeal muscles, Abnor... OMIM:606353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Proximal amyotrophy, Difficulty walking, Lower limb muscle weakness, Muscular dystrophy, Muscle e... OMIM:253600
Myasthenic Syndrome, Congenital, 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Muscl... OMIM:616228
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Difficulty walking, Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Tri... ORPHA:86812
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Spasticity, Degeneration of the striatum, Abnormal pyramidal sign, ... ORPHA:276244
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Clonus, Skeletal muscle atrophy, Spastic gait, Babinski sign, Lower limb spasticity OMIM:615681
Sandhoff Disease, Adult Form
Spasticity, Proximal muscle weakness in lower limbs, Sensory axonal neuropathy, Muscle fiber atro... ORPHA:309169
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Lower limb muscle weakness, Ankle clonus, Skeletal muscle atrophy, Spastic par... OMIM:610250
Primary Lateral Sclerosis, Adult, 1
Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic gait, Babinski sign, Spastic ... OMIM:611637
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Ataxia, Distal amyotrophy, Hypertrophic nerve changes, Gait ataxia, Onion bulb formation, Segment... OMIM:601098
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Distal lower limb amyotrophy, Frequent falls, Gait disturbance, Hand tremor, Difficulty walking, ... OMIM:302800
Neuronopathy, Distal Hereditary Motor, Type Iib
Paresis of extensor muscles of the big toe, Difficulty walking, Paralysis, Distal lower limb musc... OMIM:608634
Spinal Muscular Atrophy, Scapuloperoneal
Spinal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy OMIM:271220
Mitochondrial Myopathy With Diabetes
Proximal amyotrophy, Weakness of orbicularis oculi muscle, Ataxia, Difficulty walking, EMG: myopa... OMIM:500002
Pontocerebellar Hypoplasia Type 1
Spasticity, Tongue fasciculations, Ataxia, Hypoplasia of the pons, Cerebellar cyst, Skeletal musc... ORPHA:2254
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Abnormal myelination, Spastic gait, Babinski sign, L... ORPHA:401840
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Spinal muscular atroph... OMIM:158600
Spinocerebellar Ataxia 18
Limb muscle weakness, Skeletal muscle atrophy, Progressive gait ataxia, Dysdiadochokinesis, Tremo... OMIM:607458
Spastic Paraplegia 43, Autosomal Recessive
Spasticity, Distal amyotrophy, Knee flexion contracture, Spastic paraplegia, Ankle flexion contra... OMIM:615043
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Lethal Congenital Contracture Syndrome 7
Cerebral atrophy, Distal arthrogryposis, Facial diplegia, Skeletal muscle atrophy, Knee flexion c... OMIM:616286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Falls, Fatty replacement of skeletal muscle, Muscle fibe... OMIM:618848
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Difficulty walking, Distal ... OMIM:601596
Spinocerebellar Ataxia 37
Frequent falls, Unsteady gait, Ataxia, Tremor, Cerebellar atrophy OMIM:615945
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle weakness, Distal amyotrophy, First dorsal interossei muscle atrophy, Upper limb mus... OMIM:601472
Vacuolar Neuromyopathy
Shoulder girdle muscle weakness, Muscle fiber splitting, Muscular dystrophy, Scapular winging, Ce... OMIM:601846
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Fatty replacement of ... OMIM:301075
Developmental And Epileptic Encephalopathy 14
Spasticity, Delayed CNS myelination, Clonus, Gliosis, Tetraplegia, Neuronal loss in central nervo... OMIM:614959
Charcot-Marie-Tooth Disease, Type 4B2
Difficulty walking, Distal amyotrophy, Steppage gait, Decreased number of peripheral myelinated n... OMIM:604563
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Gait ataxia OMIM:253590
Amyotrophic Lateral Sclerosis Type 4
Babinski sign, Abnormal pyramidal sign, Skeletal muscle atrophy, Spastic paraplegia ORPHA:357043
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Hemiplegia, Abnormality of extrapy... OMIM:614561
Myopathy, Myofibrillar, 6
Lower limb muscle weakness, Muscular dystrophy, Diaphragmatic paralysis, Knee flexion contracture... OMIM:612954
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Ataxia, Short stature, Chorea, Peripheral demyelination, Peripheral axonal dege... OMIM:604168
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Gait disturbance, Distal amyotrophy, Optic atrophy, Onion bulb formation, Segmental peripheral de... OMIM:311070
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Distal amyotrophy, Steppage gait... OMIM:600882
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal amyotrophy, Segmental peripheral demyelination, Decreased number of peripheral myelinated ... OMIM:606482
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Muscular dystrophy, Increased endomysial connective tissue, Centrally nucleate... OMIM:617066
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Proximal muscle weakness in lower limbs, Distal amyotrophy, Vocal cord paresis, Decreased number ... OMIM:607706
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Myopathy, Myofibrillar, 2
Leg muscle stiffness, Shoulder girdle muscle weakness, Muscle fiber splitting, Lower limb muscle ... OMIM:608810
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Frequent falls, Hepatosplenomegaly, Limb myoclonus, Eyelid myoclonus, Inability to walk, Difficul... ORPHA:2590
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Failure to thrive in infancy, Spastic diplegia, Short stature, Myoclonus, Increased varia... OMIM:619065
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Torticollis, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Congenital muscular d... OMIM:613204
Myofibrillar Myopathy 11
Overweight, Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myopathic abno... OMIM:619178
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Lower limb muscle weakn... OMIM:607317
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the calf musculature, Shoulder girdle muscle weakness, Unsteady gait, Difficulty w... ORPHA:600
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Distal amyotrophy, Spastic paraplegia, Demyelinating motor neur... OMIM:182815
Charcot-Marie-Tooth Disease Type 4G
Lower limb amyotrophy, Difficulty walking, Distal lower limb muscle weakness, Distal amyotrophy, ... ORPHA:99953
Ataxia-Oculomotor Apraxia Type 4
Oculomotor apraxia, Ataxia, Distal lower limb muscle weakness, Muscular dystrophy, Abnormal toe m... ORPHA:459033
Spastic Paraplegia 73, Autosomal Dominant
Babinski sign, Spastic paraplegia, Skeletal muscle atrophy, Prolonged central motor conduction time OMIM:616282
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Difficulty walking, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Calf muscle hype... OMIM:609308
Dystonia 23
Limb dystonia, Torticollis, Gait disturbance, Axial dystonia, Writer's cramp, Head tremor, Myoclo... OMIM:614860
Marinesco-Sjögren Syndrome
Spasticity, Hip dislocation, Severe short stature, Ataxia, Myopathy, Hip dysplasia, Muscular dyst... ORPHA:559
Nonaka Myopathy
Gait disturbance, Distal lower limb muscle weakness, Distal amyotrophy, EMG: myopathic abnormalit... OMIM:605820
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Steppage gait, Peripheral demyelination, Foot dorsiflexor weakness, Axonal deg... OMIM:607736
Spastic Paraplegia 2, X-Linked
Lower limb muscle weakness, Babinski sign, Skeletal muscle atrophy, Spinocerebellar tract degener... OMIM:312920
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Distal lower limb muscle weakness, Hand muscle weakness, Steppage gait, Increased endomysial conn... ORPHA:437572
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Steppage gait, Peripheral axonal neuropathy, Hammertoe, Onion bulb formation OMIM:610100
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Tongue fasciculations, Spinal muscular atrophy, Weakness ... ORPHA:1145
Spinal Muscular Atrophy, X-Linked 2
Tongue fasciculations, Spinal muscular atrophy, Myopathy, Facial palsy, Decreased compound muscle... OMIM:301830
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping, Tremor OMIM:614369
Chronic Inflammatory Demyelinating Polyneuropathy
Unsteady gait, Difficulty walking, Falls, Hand muscle weakness, Peripheral demyelination, Segment... ORPHA:2932
Inherited Creutzfeldt-Jakob Disease
Abnormal pyramidal sign, Senile plaques, Progressive cerebellar ataxia, Global brain atrophy, Ast... ORPHA:282166
Autosomal Recessive Spastic Paraplegia Type 62
Clonus, Skeletal muscle atrophy, Knee flexion contracture, Spastic gait, Lower limb spasticity ORPHA:401785
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Skeletal muscle atrophy, Gait disturbance, Hand muscle atrophy ORPHA:99944
Nemaline Myopathy 2
Inability to walk, Slender build, Type 1 muscle fiber predominance, Steppage gait, Rimmed vacuole... OMIM:256030
Autosomal Recessive Spastic Paraplegia Type 76
Limb ataxia, Ataxia, Lower limb muscle weakness, Ankle clonus, Skeletal muscle atrophy, Gait atax... ORPHA:488594
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Proximal amyotrophy, Difficulty walking, Muscular dystrophy, Scapular winging, Calf muscle hypert... OMIM:601287
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Spinocerebellar Ataxia 35
Torticollis, Difficulty walking, Ataxia, Pseudobulbar paralysis, Loss of ambulation, Impaired pro... OMIM:613908
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle weakness, Abnorma... OMIM:606070
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Cerebellar atrophy, Difficulty walking ORPHA:423296
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Intrinsic hand muscle atrophy, Impaired tandem gait, Triceps weakness, Polyminimyoclonus, Vocal c... OMIM:619574
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Steppage gait, Peripheral axonal atrophy, Decreased number of peripheral myeli... OMIM:605588
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Unsteady gait, Chorea, Tremor, Brain atrophy, Hemiballismus ORPHA:494526
Cyanide-Induced Parkinsonism-Dystonia
Parkinsonism, Subcortical cerebral atrophy, Falls, Short stepped shuffling gait, Rigidity, Bradyk... ORPHA:306692
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Parkinsonism, Global brain atrophy, Apraxia, CNS demyelination, Rigidity, Bradykinesi... OMIM:221820
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Small for gestational age, Spinal muscular atrophy, Distal amyotrophy, D... OMIM:604320
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skeletal muscle, Z-band... OMIM:618823
Distal Myopathy, Welander Type
Intrinsic hand muscle atrophy, Myopathy, Clumsiness, Difficulty walking, Steppage gait, EMG: myop... ORPHA:603
Dysequilibrium Syndrome
Cerebral palsy, Skeletal muscle atrophy, Short stature, Ataxia ORPHA:1766
Neuronopathy, Distal Hereditary Motor, Type I
Distal amyotrophy, Upper limb muscle weakness, Hypertonia, Babinski sign OMIM:182960
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Cerebral atrophy, Ankle clonus, Distal amyotrophy, Head ... OMIM:611302
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Cerebral atrophy, Hypomimic face, Ankle clonus, Loss of ambulation, Sci... ORPHA:521406
Dpm3-Cdg
Muscular dystrophy, Rimmed vacuoles, Pelvic girdle muscle weakness, Calf muscle hypertrophy, Babi... ORPHA:263494
Myopathy, Distal, Tateyama Type
Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscle fiber predominance, ... OMIM:614321
Myopathy, Centronuclear, 1
Proximal amyotrophy, Distal lower limb muscle weakness, Type 1 muscle fiber predominance, Skeleta... OMIM:160150
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Demyelinating sensory neuropathy, Ataxia, Distal amyotrophy, Limb muscle weakness, Steppage gait,... OMIM:618387
Lethal Congenital Contracture Syndrome 8
Distal arthrogryposis, Facial diplegia, Distal amyotrophy, Peripheral hypomyelination, Hammertoe,... OMIM:616287
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tetraparesis, Unsteady gait, Clumsiness, Diaphyseal dysplasia, Tip-toe gait, Decreased number of ... ORPHA:2386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Quadriceps muscle atrophy, Shoulder girdle muscle weakness, Muscular dystrophy, EMG: myopathic ab... OMIM:611307
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Tetraparesis, Dystonia, Gait disturbance, Shoulder girdle muscle weakness, Myopathy, Temporal cor... OMIM:167320
Tubular Aggregate Myopathy
Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Centr... ORPHA:2593
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Myopathy, Muscular dystrophy, Scapular winging, Centrally nucleated skeletal... OMIM:612999
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Inability to walk, Shoulder girdle muscle weakness, Autophagic vacuoles, EMG: myopathic abnormali... ORPHA:266
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue fasciculations, Loss of ambulation, Amyotrophic lateral sclerosis, Fasciculations OMIM:613435
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Tetraparesis, Motor axonal neuropathy, Inability to walk, Global brain atrophy, Ataxi... OMIM:618276
Autosomal Dominant Spastic Paraplegia Type 4
Spasticity, Leg muscle stiffness, Ataxia, Distal amyotrophy, Lower limb muscle weakness, Ankle cl... ORPHA:100985
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Lower limb amyotrophy, Difficulty walking, Optic disc pallor, Peripheral axonal neuropathy, Decre... OMIM:617087
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in central nervous system, Ce... OMIM:143100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Astrocytosis, Babinski sign, Rigidity, Myoclonus, Neuronal loss in central nerv... OMIM:600795
Myopathy, Scapulohumeroperoneal
Wrist drop, Skeletal muscle atrophy, Nemaline bodies, Scapular winging, Achilles tendon contractu... OMIM:616852
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Type 1 muscle fiber predominance, Muscular dystrophy, Skeletal muscle atr... OMIM:253700
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Astrocytosis, Babinski sign, Abnor... ORPHA:204
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Gait disturbance, Muscular dystrophy, Loss of ambulation, Generalized amyotrophy, Elbow flexion c... OMIM:616516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Macroglossia, Muscular dystrophy, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Shor... OMIM:608840
Myopathy, Centronuclear, 4
Frequent falls, Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Gemignani Syndrome
Delayed puberty, Ataxia, Skeletal muscle atrophy, Hemiplegia/hemiparesis, Short stature ORPHA:2074
Multiminicore Myopathy
Proximal muscle weakness in lower limbs, Minicore myopathy, Myopathy, Short stature, Failure to t... ORPHA:598
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Frequent falls, Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, L... OMIM:616924
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Boucher-Neuhauser Syndrome
Spasticity, Ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spinocerebellar at... OMIM:215470
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity, Cerebellar atrophy ORPHA:217012
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Apraxia, Ataxia ORPHA:85338
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Frequent falls, Inability to walk by childhood/adolescence, Hand tr... ORPHA:99947
Spastic Paraplegia 9A, Autosomal Dominant
Gait disturbance, Hoffmann sign, Abnormal upper motor neuron morphology, Short stature, Gait atax... OMIM:601162
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Muscular Dystrophy, Limb-Girdle, Type 1H
Shoulder girdle muscle atrophy, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, C... OMIM:613530
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Segmental periph... OMIM:607791
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Fatty replacement of s... OMIM:608807
Charcot-Marie-Tooth Disease Type 4A
Frequent falls, Inability to walk, Shoulder girdle muscle weakness, Poor gross motor coordination... ORPHA:99948
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Inability to walk, Ataxia OMIM:615350
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Skeletal muscle atrophy, Peripheral axonal neuropathy, Lower-limb joint contr... OMIM:613710
Autosomal Recessive Spastic Paraplegia Type 43
Spasticity, Distal amyotrophy, Knee flexion contracture, Flexion contracture of finger, Ankle fle... ORPHA:320370
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Lower limb muscle weakness, Babinski sign, Ankle clonus, Skeletal muscle atrophy, Tip-toe... OMIM:604360
Amyotrophic Lateral Sclerosis
Spasticity, Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralys... ORPHA:803
Spastic Paraplegia 18, Autosomal Recessive
Lower limb muscle weakness, Ankle clonus, Skeletal muscle atrophy, Spastic paraplegia, Upper limb... OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Unsteady gait, Hypogonadism, Ankle clonus, Tremor, Babinski sign, Cerebe... OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Spasticity, Frequent falls, Proximal amyotrophy, Intrinsic hand mus... OMIM:620068
Neuropathy, Congenital Hypomyelinating, 2
Inability to walk, Facial diplegia, Distal amyotrophy, Skeletal muscle atrophy, Decreased number ... OMIM:618184
Spinocerebellar Ataxia, Autosomal Recessive 22
Abnormal pyramidal sign, Unsteady gait, Ataxia, Intention tremor, Truncal ataxia, Lower limb spas... OMIM:616948
Myopathy, Myofibrillar, 5
Muscle fiber splitting, Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusio... OMIM:609524
Charcot-Marie-Tooth Disease, Type 4B3
Gait disturbance, Distal lower limb muscle weakness, Lower limb muscle weakness, Skeletal muscle ... OMIM:615284
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Gait disturbance, Ataxia, Abnormal nerve conduction velocity, Tremo... ORPHA:101075
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo... OMIM:158901
Null Syndrome
Inability to walk, CNS hypomyelination, Difficulty walking, Ataxia, Progressive spastic paraplegi... ORPHA:280234
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Ataxia, Short stature, Tremor, Gait ataxia, Gliosis, Cerebellar vermis a... OMIM:213200
Welander Distal Myopathy
Distal amyotrophy, Steppage gait, Rimmed vacuoles OMIM:604454
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Posterior Column Ataxia With Retinitis Pigmentosa
Camptodactyly, Hyperintensity of MRI T2 signal of the spinal cord, Ataxia, Skeletal muscle atroph... OMIM:609033
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vac... ORPHA:611
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Ataxia, Morning myoclonic jerks, Intention tremor, Myoclonus ORPHA:308
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Gait ataxia, Cerebella... OMIM:615957
Amyotrophic Lateral Sclerosis 19
Loss of ambulation, Amyotrophic lateral sclerosis OMIM:615515
Spinocerebellar Ataxia Type 40
Unsteady gait, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dysmetria, Broad-based gait, Sp... ORPHA:423275
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Unsteady gait, EMG: myopathic abnormalities, Scapular winging, Limb-girdle muscular dystrophy, In... OMIM:608099
Neuronopathy, Distal Hereditary Motor, Type Iia
Paralysis, Distal lower limb muscle weakness OMIM:158590
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Charcot-Marie-Tooth Disease, Type 4J
Frequent falls, Gait disturbance, Distal arthrogryposis, Peripheral hypomyelination, Axonal loss,... OMIM:611228
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Cerebral atrophy, Delayed CNS myelination, Intrauterine growth retardation, Gliosis, ... OMIM:615095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Macroglossia, Inability to walk, Hip dislocation, Left ventricular hypertrophy, Muscular dystroph... OMIM:613156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Difficulty walking, Muscular dystrophy, Skeletal muscle atrophy, Loss of ambulation, Centrally nu... OMIM:616812
Lethal Congenital Contracture Syndrome 4
Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy, Distal arthrogryposis OMIM:614915
Neurodegeneration With Brain Iron Accumulation 6
Spastic tetraplegia, Gait disturbance, Distal amyotrophy, Tip-toe gait, Rigidity, Bradykinesia, O... OMIM:615643
Spinocerebellar Ataxia Type 37
Gait disturbance, Falls, Cogwheel rigidity, Dysdiadochokinesis, Tremor, Cerebellar vermis atrophy... ORPHA:363710
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Congenital Disorder Of Glycosylation, Type Ie
Camptodactyly, Pontocerebellar atrophy, Ataxia, Muscular dystrophy, Knee flexion contracture, Fai... OMIM:608799
Spinocerebellar Ataxia Type 25
Progressive cerebellar ataxia, Spastic dysarthria, Decreased number of large peripheral myelinate... ORPHA:101111
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Sternocleidomastoid amyotrophy, Pectoralis amyotrophy, Achilles ... OMIM:604801
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Gait disturbance, Myopathy, Muscular dystrophy, Hypoglycosylation of alp... ORPHA:272
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Difficulty walking, Oculogyric crisis, Skeletal muscle atrophy, Diffuse cerebr... ORPHA:330050
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Frequent falls, Limb ataxia, Progressive cerebellar ataxia, Unstead... ORPHA:1175
Myopathy, Centronuclear, 2
Intrauterine growth retardation, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Ce... OMIM:255200
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Weakness of facial musculature, Flexion contracture of finger, Increas... OMIM:618484
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Muscle fiber hyaline bodies, Proximal amyotrophy, Type 1 muscle fiber predominance, Loss of ambul... OMIM:255160
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Parkinsonism, Gait disturbance, Cerebral atrophy, Falls, Hypomimic face, Impaired tan... OMIM:300423
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:605253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Frequent falls, Proximal amyotrophy, Shoulder girdle muscle weakness, Difficulty wa... OMIM:606612
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Peroneal muscle atrophy, Neck joint contracture, Distal lower limb ... OMIM:181350
Neuronopathy, Distal Hereditary Motor, Type Iid
Lower limb amyotrophy, Spinal muscular atrophy, Lower limb muscle weakness, Triceps weakness, Dec... OMIM:615575
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Distal lower limb muscle weakness, Muscular dystrophy, Quadriceps musc... OMIM:613319
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Hypomimic face, Lower limb spasticity, Parkinsonism with favorable response to dopa... OMIM:260300
Spinocerebellar Ataxia 11
Limb ataxia, Progressive cerebellar ataxia, Gait ataxia, Gait imbalance, Truncal ataxia OMIM:604432
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Distal amyotrophy, Steppage gait, Decreased number of large peripheral myelinated nerve fibers, H... OMIM:615376
Spinal Muscular Atrophy, Infantile, James Type
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Short stature, H... OMIM:619042
Triose Phosphate-Isomerase Deficiency
Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased nerve conduction velocity, Central ne... ORPHA:868
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Claw hand deformity, Spinal muscular atrophy, Distal amyotrophy, Decreased motor nerve conduction... OMIM:605726
Muscular Dystrophy, Congenital, Lmna-Related
Hamstring contractures, Elbow contracture, Achilles tendon contracture, Upper limb muscle weaknes... OMIM:613205
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Congenital Myopathy 18
Increased endomysial connective tissue, Centrally nucleated skeletal muscle fibers, Increased var... OMIM:620246
Congenital Myopathy 1B, Autosomal Recessive
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, Facial palsy, Ce... OMIM:255320
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 17
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Diffuse cerebral atrophy, Rigidity, Chorea, Bradykine... OMIM:607136
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Dystonia, Oculomotor apraxia, Ataxia, Lower limb muscle weakness, Distal amyotrophy, ... OMIM:614487
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Gait disturbance, Unsteady gait, Ataxia, Cerebral atrophy,... ORPHA:98762
X-Linked Centronuclear Myopathy
Inability to walk, Weakness of facial musculature, Necklace skeletal muscle fibers, Centrally nuc... ORPHA:596
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Frequent falls, Abnormal macrophage morphology, Tip-toe gait, EMG: myopathic abnorm... ORPHA:353
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Fiber type grouping, Ataxia, Distal amyotrophy, Clumsiness, Cerebellar cortical atrophy, Atrophy/... OMIM:271245
Bethlem Myopathy
Camptodactyly of finger, Reduced muscle collagen VI, Achilles tendon contracture, Quadriceps musc... ORPHA:610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Macroglossia, Inability to walk, Muscular dystrophy, Facial palsy, Congenital muscular dystrophy,... OMIM:613155
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Tetraparesis, Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf ... OMIM:616827
Adult Krabbe Disease
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Gait disturbance, Ataxi... ORPHA:206448
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Failure to thrive, Facial palsy, Centrally nucleated skeletal muscle ... OMIM:255310
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Ataxia, Distal amyotrophy, Steppage gait, Peripheral axonal neuropathy, Decreas... OMIM:607250
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Dysmetria, Fiber type grouping, Myopathy, Ataxia, Weakness of facial musculatur... OMIM:607459
Oculopharyngodistal Myopathy 3
Ataxia, Distal amyotrophy, Weakness of facial musculature, Tremor, Increased endomysial connectiv... OMIM:619473
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Wrist drop, Weakness of facial musculature, Distal amyotrophy, Dist... OMIM:619519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Gait disturbance, Cerebral atrophy, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Muscular dystrophy, Central core regions in muscle fibers OMIM:159050
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Inability to walk, Distal lower limb muscle weakness, Hand muscle weakness, Atrophy of the spinal... ORPHA:466768
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis anterior muscle atrophy, Shoulder girdle muscle weakness, Facial diplegia, Sternocleidom... ORPHA:98905
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Lower limb amyotrophy, Upper limb amyotrophy, Intrinsic hand muscle... ORPHA:90103
L-2-Hydroxyglutaric Aciduria
Abnormal pyramidal sign, Global brain atrophy, Ataxia, Abnormality of extrapyramidal motor functi... OMIM:236792
Severe X-Linked Mitochondrial Encephalomyopathy
Sensory axonal neuropathy, Skeletal muscle atrophy, Increased variability in muscle fiber diamete... ORPHA:238329
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Hand muscle weakness, Postural tremor, Abnormal motor nerve conduction velocit... ORPHA:100998
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Peripheral axona... OMIM:608673
Childhood-Onset Nemaline Myopathy
Arthrogryposis multiplex congenita, Slender build, Facial diplegia, Myopathy, Clumsiness, Type 1 ... ORPHA:171439
Hereditary Motor And Sensory Neuropathy V
Spasticity, Frequent falls, Abnormal pyramidal sign, Distal amyotrophy, Decreased motor nerve con... OMIM:600361
X-Linked Charcot-Marie-Tooth Disease Type 6
Distal lower limb amyotrophy, Hand tremor, Difficulty walking, Lower limb muscle weakness, Steppa... ORPHA:352675
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Unsteady gait, Chorea, Tremor, Hemiballismus OMIM:616921
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Muscle fiber splitting, Anemia, Muscular dystrophy, Short stature, Increased variability in muscl... OMIM:226670
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... OMIM:617072
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Leg muscle stiffness, Inability to walk, Hypomimic face, Short stepped s... ORPHA:391411
Machado-Joseph Disease
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Distal amyotrophy, ... OMIM:109150
Urocanase Deficiency
Ataxia, Broad-based gait, Gait ataxia, Action tremor, Truncal ataxia, Dysmetria OMIM:276880
Myopathy, Distal, 5
Muscle fiber splitting, Distal lower limb muscle weakness, Distal amyotrophy, Weakness of facial ... OMIM:617030
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Inability to walk, Distal lower limb muscle weakness, Hand muscle weakness, Steppage... ORPHA:101085
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Limb ataxia, Difficulty walking, Lower limb spasticity, Spastic dysarthria,... ORPHA:251282
Merrf
Ataxia, Myopathy, Short stature, Optic atrophy, Ragged-red muscle fibers ORPHA:551
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Gait disturbance, Rigidity, Dysdiadochokinesis ORPHA:228169
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Gait disturbance, Myopathy, Waddling gait, Increased var... ORPHA:1878
Adult-Onset Nemaline Myopathy
Difficulty walking, Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, EMG: ... ORPHA:171442
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Difficulty walking, EMG: myopathic abnormalities, Muscle fi... ORPHA:399058
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Dystonia, Abnormality of the musculature of the lower limbs, Cerebral atrophy, Ataxia... ORPHA:464282
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Cer... OMIM:604326
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Short stature, Failure to thrive, Centrally nucleated skeletal muscle fibers,... OMIM:619518
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... ORPHA:206549
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
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Loss of ambulation, CNS demyelination, Gait ataxia, Peripheral demyelination, Spastic tetraparesi... OMIM:249900
Krabbe Disease
Progressive spasticity, Autoimmune thrombocytopenia, Diffuse cerebral atrophy, CNS demyelination,... OMIM:245200
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Autonomic erectile dysfunction, Spasticity, Ataxia, Pseudobulbar paralysis, Symmetric peripheral ... OMIM:169500
Charcot-Marie-Tooth Disease And Deafness
Gait disturbance, Thenar muscle weakness, Distal amyotrophy, Steppage gait, Decreased motor nerve... OMIM:118300
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... OMIM:611705
Neurodegeneration With Brain Iron Accumulation 8
Unsteady gait, Ataxia, Loss of ambulation, Tremor, Cerebellar atrophy, Dysmetria OMIM:617917
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Tremor ORPHA:101078
Spastic Paraplegia 45, Autosomal Recessive
Spastic gait, Skeletal muscle atrophy, Spastic paraplegia, Flexion contracture, Babinski sign, Op... OMIM:613162
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Unsteady gait, Myopathy, Limb-girdle muscular dystrophy, Rimmed vacuoles, Waddling gait, Increase... OMIM:612937
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Impaired tandem gait, Tremor, Type 2 muscle fiber predominance, Myoclonus, Cerebellar atr... OMIM:619028
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Delayed puberty, Minicore myopathy, Overweight, EMG: myopathic abnormalities, Centrally nucleated... ORPHA:486815
Roussy-Lévy Syndrome
Frequent falls, Acute demyelinating polyneuropathy, Limb ataxia, Intrinsic hand muscle atrophy, L... ORPHA:3115
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Astrocytosis, Abnormality of extrapyramidal motor function, Fasciculations, Upp... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Parkinsonism, Ataxia, Neurogenic bladder, Amyotrophic lateral sclerosis, Babinski sign, Cerebral ... OMIM:615911
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Ataxia, Lower limb muscle weakness, Ankle clonus, Spastic paraplegia, Spas... OMIM:610357
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Steppage gait, Distal upper limb amyotrophy, A... OMIM:614455
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Loss of ambulation,... OMIM:300717
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Inability to walk, Intrinsic hand muscle atrophy, Decreased muscle mass, Knee flexion contracture... OMIM:615490
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Motor axonal neuropathy, Gait disturbance, Ata... OMIM:614298
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Myoclonic spasms, Delayed CNS myelination, Limb hypertonia, Babinski sign, Clonus, Abnormal auton... OMIM:614498
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers, Fascicul... ORPHA:324581
Mitochondrial Complex I Deficiency, Nuclear Type 21
Spasticity, Ataxia, Myopathy, Difficulty walking, Growth delay, Babinski sign, Leukodystrophy, Ra... OMIM:618242
Spinocerebellar Ataxia, Autosomal Recessive 27
Spasticity, Frequent falls, Torticollis, Spastic ataxia, Gait ataxia, Lower limb hypertonia, Glio... OMIM:618369
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Diffuse cerebral atrophy, Abnormality of extrapyramidal motor function, Tremor, Gait atax... OMIM:615362
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Lower limb muscle weakness, Degeneration of the lateral corticospinal tracts, Tremor, Spa... OMIM:600363
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy OMIM:611369
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spasticity, Spastic tetraplegia, Spinal muscular atrophy, Ataxia, Distal amyotrophy, Foot dorsifl... OMIM:617207
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Hypertonia, Rigidity OMIM:613869
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, CNS hypomyelination, Myopathy, Weakness of facial musculature, Skeletal muscle atroph... OMIM:616239
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Progressive truncal ataxia, Upper motor neuron dysfunction, Peroneal muscle atrophy, ... OMIM:270550
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Abnormality of the Achilles tendon, Rigidity, Tremor,... ORPHA:98763
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Myopathy, Muscular dystrophy, Muscle fiber atrophy, Chorea, Limb-girdle muscu... ORPHA:369840
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Inability to walk, Difficulty walking, Astrocytosis, Facial hypotonia OMIM:611087
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Abnormal motor neuron morphology DECIPHER:29
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Scapular winging... ORPHA:169186
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Frequent falls, Gait disturbance, Unsteady gait, Distal amyotrophy, Axonal l... OMIM:601455
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Left ventricular hypertrophy, Intrauterine growth retardation, Periphe... OMIM:616733
Muscular Dystrophy, Progressive Pectorodorsal
Muscular dystrophy, Shoulder girdle muscle weakness, Scapular winging OMIM:310095
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Diaphragmatic paralysis, EMG: myopathic abnormalities, Failure to thrive... OMIM:614399
Finnish Upper Limb-Onset Distal Myopathy
Intrinsic hand muscle atrophy, Difficulty walking, Clumsiness, Steppage gait, EMG: myopathic abno... ORPHA:399086
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Difficulty walking, Type 1 muscle fiber predominance, EM... ORPHA:169189
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Rigidity, Brady... OMIM:183050
Primary Lateral Sclerosis
Spasticity, Upper motor neuron dysfunction, Motor axonal neuropathy, Weakness due to upper motor ... ORPHA:35689
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Loss of ambulation, Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle ... ORPHA:34516
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Frequent falls, Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypogl... OMIM:611588
Striatonigral Degeneration, Infantile, Mitochondrial
Frequent falls, Difficulty walking, Clonus, Poor motor coordination, Paroxysmal choreoathetosis, ... OMIM:500003
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Progressive spastic paraplegia, Spastic dysarthria, Abnormal myelination, Cerebral c... ORPHA:401830
Leukoencephalopathy, Progressive, With Ovarian Failure
Spasticity, Premature ovarian insufficiency, Hand tremor, Ataxia, Apraxia, Neurodegeneration, Bab... OMIM:615889
3-Methylglutaconic Aciduria Type 3
Gait disturbance, Choreoathetosis, Ataxia, Spastic paraparesis ORPHA:67047
Frontotemporal Dementia
Neuronal loss in central nervous system, Parkinsonism, Amyotrophic lateral sclerosis OMIM:600274
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Cerebral atrophy, Ataxia, Tremor, Myoclonus, N... OMIM:615924
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Facial palsy, Proximal muscle weakness in lower limbs, Short stature, Ragged-red muscle fibers OMIM:616209
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan OMIM:615352
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Migraine, Familial Hemiplegic, 1
Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy OMIM:141500
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Proximal amyotrophy, Compound muscle action potential amplitude facilitation, Distal amyotrophy, ... OMIM:616040
Pontocerebellar Hypoplasia, Type 4
Spasticity, Congenital contracture, Gliosis, Myoclonus, Hypertonia OMIM:225753
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Paraplegia, Myelitis, Peripheral demyelination ORPHA:71211
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Slender build, Hip dislocation, Increased laxity of fing... OMIM:254090
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Gait disturbance, Retrocollis, Tip-toe gait, Tremor, Oromandibular dysto... OMIM:617284
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Intention tremor, Myoclonus, Generalized ... ORPHA:2589
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Fasciculations ORPHA:85162
Leukodystrophy, Hypomyelinating, 5
Abnormal pyramidal sign, Lower limb amyotrophy, CNS hypomyelination, Lower limb muscle weakness, ... OMIM:610532
Congenital Myopathy 15
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... OMIM:620161
Spinocerebellar Ataxia, X-Linked 1
Unsteady gait, Ataxia, Abnormality of extrapyramidal motor function, Intention tremor, Action tre... OMIM:302500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Gait disturbance ORPHA:1875
Glut1 Deficiency Syndrome 1
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis OMIM:606777
Spastic Paraplegia 64, Autosomal Recessive
Spasticity, Delayed puberty, Skeletal muscle atrophy, Spastic paraplegia OMIM:615683
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Muscular dystrophy, Congenital muscular dystrophy, Optic atrophy OMIM:613151
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Parkinsonism with favorable response to dopaminergic medication, Postural tremo... ORPHA:314632
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Myoclonus, Ataxia OMIM:616187
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Internally nucl... OMIM:618138
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Muscular dystrophy, Limb-girdle muscle weakness OMIM:616094
Neuropathy, Hereditary Motor, With Myopathic Features
Frequent falls, Lower limb amyotrophy, Proximal muscle weakness in lower limbs, Tongue fasciculat... OMIM:619216
Autosomal Recessive Spastic Paraplegia Type 74
Distal lower limb muscle weakness, Distal amyotrophy, Progressive spastic paraplegia, Babinski si... ORPHA:468661
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Giant somatosensory evoked potentials, Myoclonus, Enhancement of the ... OMIM:613608
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia OMIM:619099
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy, Demyelinating motor neuropathy, Demyelinating sensory neuropathy ORPHA:639
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy OMIM:613723
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... ORPHA:71277
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb amyotrophy, Spinal cord lesion, Clonus, Lower limb muscle weakness, Babinski sign, Pro... ORPHA:171863
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Gait disturbanc... ORPHA:216873
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy, Short stature ORPHA:2380
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Loss of ambulation, Slurred speech, Poor fine motor coordination, ... ORPHA:137898
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Skeletal muscle atrophy, Proximal amyotrophy, Increased variability in muscle... OMIM:614302
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Muscular dystrophy, Skeletal muscle hypertrophy, Increased endomysial connective tissue, Increase... OMIM:613157
Congenital Muscular Dystrophy, Ullrich Type
Frequent falls, Torticollis, Hip dislocation, Increased laxity of fingers, Knee flexion contractu... ORPHA:75840
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Distal Hereditary Motor Neuropathy Type 5
Thenar muscle weakness, Distal lower limb muscle weakness, Distal amyotrophy, First dorsal intero... ORPHA:139536
Bethlem Myopathy 2
Hip dislocation, Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flex... OMIM:616471
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy OMIM:612998
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Ataxia, Gait ataxia, Increased variability in muscle fiber diameter, Cerebella... OMIM:617915
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle weakness, Lower limb muscle weakness, First dorsal interossei muscle atrophy, Postu... OMIM:270685
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal lower limb amyotrophy, Thenar muscle weakness, Myopat... OMIM:614065
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Cerebral hypomyelination, Ataxia, Titubation, Short stature, Abnormal myel... ORPHA:280210
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Hip dysplasia, Weakness of facial musculature, Muscle fiber atrophy,... ORPHA:324604
Idiopathic Camptocormia
Syringomyelia, Parkinsonism, Cerebral atrophy, Abnormal muscle fiber dysferlin, Amyotrophic later... ORPHA:1320
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Myopathy, Short stature, Facial palsy, Decreased body weight, Type 1 f... OMIM:300580
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ataxia, Difficulty walking, Lower limb spasticity, Ankle clonus, Atrophy/Degeneration affecting t... OMIM:612319
Oculopharyngodistal Myopathy 2
Weakness of facial musculature, EMG: myopathic abnormalities, Fatty replacement of skeletal muscl... OMIM:618940
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Shoulder girdle muscle weakness, Myopathy, Proximal lower limb amyotrophy, Flexion limitation of ... OMIM:609115
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Torticollis, Parkinsonism, Unsteady gait, Postural tremor... ORPHA:210571
Developmental And Epileptic Encephalopathy 71
Gliosis, CNS demyelination OMIM:618328
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Limb ataxia, Steppage gait, Rigidity, Dystonia, Weakness of facial musculature, Facial palsy, Bra... OMIM:258450
Behr Syndrome
Frequent falls, Progressive spasticity, Gait disturbance, Unsteady gait, Ataxia, Hamstring contra... OMIM:210000
King-Denborough Syndrome
Minicore myopathy, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber... OMIM:619542
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Dystonia, Ataxia, Distal amyotrophy, Loss of ambulation, Chorea,... OMIM:208920
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Frequent falls, Shoulder girdle muscle weakness, Muscle fiber splitting, Difficulty walking, Myof... OMIM:603689
Myopathy, Myofibrillar, 8
Frequent falls, Joint contracture of the 5th finger, Central core regions in muscle fibers, Nemal... OMIM:617258
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Abnormality of extrapyramidal motor function, Gliosis, Myoclonus, Neuronal loss... OMIM:604218
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Ataxia, Myopathy, Myoclonus, Ragged-red muscle fibers OMIM:545000
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evo... OMIM:601382
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spasticity, Clonus, Distal amyotrophy, Progressive spastic paraplegia, Abnormal autonomic nervous... ORPHA:139578
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Muscular dystrophy, Facial palsy, Increased endomysial connective tissue, Waddling gait OMIM:602541
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Dystonia 12
Parkinsonism, Torticollis, Unsteady gait, Hypomimic face, Tremor, Bradykinesia, Dystonia OMIM:128235
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Weakness of facial musculature, Z-band s... OMIM:181400
Congenital Myopathy 14
Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contracture, Incre... OMIM:618414
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, ... OMIM:617235
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Dpm1-Cdg
Spasticity, Hepatosplenomegaly, Camptodactyly, Pontocerebellar atrophy, Cerebral atrophy, Ataxia,... ORPHA:79322
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle weakness, Shoulder girdle muscle atrophy, Skeletal muscle atrophy, Scapula... OMIM:158900
Distal Myopathy