| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Spinal Muscular Atrophy, Scapuloperoneal |
|
Scapular muscle atrophy, Peroneal muscle atrophy, Spinal muscular atrophy |
OMIM:271220 |
| Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Scapular winging, Proximal upper limb amyotrophy, Generalized limb muscle atrophy, Proximal lower... |
ORPHA:219 |
| Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
|
Inability to walk, Quadriceps muscle atrophy, Triceps weakness, Tip-toe gait, Distal upper limb m... |
ORPHA:482601 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Flexion contracture of finger, Poor fine motor coordination, Spastic paraparesis, Impaired vibrat... |
ORPHA:320370 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Spastic Paraplegia 43, Autosomal Recessive |
|
Babinski sign, Distal sensory impairment, Distal amyotrophy, Spastic paraplegia, Gait disturbance... |
OMIM:615043 |
| Distal Myopathy, Welander Type |
|
Intrinsic hand muscle atrophy, Clumsiness, Distal upper limb muscle weakness, EMG: myopathic abno... |
ORPHA:603 |
| Spastic Paraplegia 38, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, First dorsal interossei muscle atrophy, Babinski... |
OMIM:612335 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Hammertoe, Tremor, D... |
OMIM:615048 |
| Miyoshi Myopathy |
|
Loss of ambulation, Triceps weakness, Tip-toe gait, Proximal muscle weakness in lower limbs, Calf... |
ORPHA:45448 |
| Autosomal Recessive Spastic Paraplegia Type 62 |
|
Tip-toe gait, Lower limb pain, Difficulty walking, Knee flexion contracture, Clonus, Spastic gait... |
ORPHA:401785 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Abnormal pyramidal sign, Babinski sign, Spastic paraplegia, Somatic sensory dysfunction, Gait dis... |
ORPHA:357043 |
| Spastic Paraplegia 62, Autosomal Recessive |
|
Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clonus, Spastic gait, Lower limb spa... |
OMIM:615681 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Spinal muscular atrophy, Distal amyotrophy, Tremor, Fasciculations, Proximal ... |
OMIM:182980 |
| Spastic Paraplegia 63, Autosomal Recessive |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... |
OMIM:615686 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Flexion contracture, Babinski sign, Tremor, Spasticity, Skeletal muscle atrophy |
OMIM:611105 |
| Neuronopathy, Distal Hereditary Motor, Type I |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Distal amyotrophy, Hammertoe, ... |
OMIM:182960 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Inability to walk, Proximal muscle weakness in lower limbs, EMG: m... |
ORPHA:276435 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Talipes equinovarus, Distal upper limb muscle weakness, Flexion contracture, Proximal muscle weak... |
OMIM:619216 |
| Spastic Paraplegia 57, Autosomal Recessive |
|
Loss of ambulation, Babinski sign, Lower limb amyotrophy, Hand muscle atrophy, Spastic paraplegia... |
OMIM:615658 |
| Bethlem Myopathy 1 |
|
Torticollis, Camptodactyly of finger, Limb-girdle muscle weakness, Elbow flexion contracture, Con... |
OMIM:158810 |
| Spastic Paraplegia 73, Autosomal Dominant |
|
Spastic paraplegia, Difficulty walking, Babinski sign, Skeletal muscle atrophy |
OMIM:616282 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, F... |
OMIM:302802 |
| Arthrogryposis, Distal, Type 10 |
|
Hamstring contractures, Tip-toe gait, Camptodactyly of finger, Wrist flexion contracture, Distal ... |
OMIM:187370 |
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:600794 |
| Spastic Paraplegia 31, Autosomal Dominant |
|
Ankle clonus, Babinski sign, Distal sensory impairment, Distal amyotrophy, Spastic paraplegia, Lo... |
OMIM:610250 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Distal amyotrophy, Somatic sensory dysfunction,... |
ORPHA:101010 |
| Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic paraplegia, Spastic gait, Babinski sign, Skeletal muscle atrophy |
OMIM:612539 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Lower limb pain, Rigidity, Distal sensory impairment, Distal amyotrophy, Tre... |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand muscle weakness, Hand tremor, Dysmetria, Tip-toe gait, Decreased motor nerve co... |
OMIM:302800 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Gait disturbance, Impair... |
ORPHA:99014 |
| Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Pelvic girdle amyotrophy, Degeneration of anterior horn cells, P... |
OMIM:253400 |
| Klhl9-Related Early-Onset Distal Myopathy |
|
Loss of ambulation, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculature, Abnormality o... |
ORPHA:399081 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait, Skeletal muscle atrophy, Myopathy, Proximal amyotrophy |
OMIM:182920 |
| Amyotonia Congenita |
|
Skeletal muscle atrophy |
OMIM:205000 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Babinski sign, Frequent falls, Difficulty walking, Chaddock reflex, Decreased compound muscle act... |
OMIM:619112 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Flexion contracture, Scapuloperoneal myopathy, Myofibrillar myopathy, Lower limb muscle weakness,... |
OMIM:300695 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal amyotrophy, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Somatic sensory dysfunction, Hand muscle weakness, Hand tremor, Steppage gait |
OMIM:300905 |
| Spastic Paraplegia 77, Autosomal Recessive |
|
Spastic paraplegia, Babinski sign, Lower limb amyotrophy |
OMIM:617046 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... |
OMIM:615575 |
| Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Multiple joint contractures, Skeletal muscle atrophy, Flexion contracture |
OMIM:614915 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
First dorsal interossei muscle atrophy, Distal amyotrophy, Thenar muscle atrophy, Upper limb amyo... |
OMIM:601472 |
| Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Lower limb pain, Decreased motor nerve conduction velocity, Babinski sign, Abnormal p... |
OMIM:600361 |
| Mitochondrial Myopathy With Diabetes |
|
Ataxia, EMG: myopathic abnormalities, Babinski sign, Weakness of orbicularis oculi muscle, Ragged... |
OMIM:500002 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Inability to walk, Intrinsic hand muscle atrophy, Spastic paraparesis, Prox... |
ORPHA:101077 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Decreased movement range in interphalangeal joints, Rimmed vacuoles, Pelvic girdle muscle weaknes... |
OMIM:609115 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Upper limb spasticity, Spastic paraparesis, Dysmetria, Flexion contracture, Ankle clonus, Knee cl... |
OMIM:275900 |
| Neuropathy, Painful |
|
Skeletal muscle atrophy, Lower limb muscle weakness |
OMIM:256870 |
| Autosomal Dominant Spastic Paraplegia Type 4 |
|
Ataxia, Impaired vibration sensation at ankles, Ankle clonus, Babinski sign, Lower limb muscle we... |
ORPHA:100985 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Generalized ... |
ORPHA:2589 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Babin... |
OMIM:270685 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Somatic sensory dysfunction, Difficulty walking, Impaired distal vibration sensation, Distal lowe... |
OMIM:615025 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Hand muscle weakness, Hand muscle atrophy, Distal sensory impairment, Distal amyotrophy, Gait dis... |
OMIM:616280 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Proximal lower limb amyotrophy, Type 2 muscle fiber pred... |
OMIM:158600 |
| Episodic Ataxia, Type 1 |
|
Abnormality of the hand, Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Epi... |
OMIM:160120 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Lower limb muscle weakness, Gait ataxia, Lower ... |
ORPHA:488594 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Talipes equinovarus, Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotroph... |
ORPHA:99940 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle weakness, Babinski sign, Abnormality of the foot musculature, Hand muscle atrophy, Di... |
ORPHA:100998 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... |
OMIM:208100 |
| Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Clumsiness, Talipes equinovarus, Limb ataxia, Impaired vibratory s... |
ORPHA:3115 |
| Muscular Atrophy, Malignant Neurogenic |
|
Skeletal muscle atrophy |
OMIM:158650 |
| Tibial Muscular Dystrophy |
|
Clumsiness, Distal upper limb muscle weakness, Proximal muscle weakness in lower limbs, EMG: myop... |
ORPHA:609 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
|
Skeletal muscle atrophy, Foot dorsiflexor weakness, Spinal muscular atrophy |
OMIM:614881 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Gait disturbance, Upper limb spast... |
OMIM:611225 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Myoclonus, Ragged-red muscle fibers, Spasticity, Myopathy |
OMIM:545000 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal sensory impairment, Distal amyotrophy, Gait disturbance, Hammertoe, Steppage gait |
OMIM:616625 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Rimmed vacuoles, Pelv... |
OMIM:167320 |
| Autosomal Recessive Spastic Paraplegia Type 45 |
|
Babinski sign, Spastic paraplegia, Optic atrophy, Flexion contracture of toe, Knee flexion contra... |
ORPHA:320396 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Flexion contracture, EMG: myopathic abnormalities, Limb-girdle muscle atrophy, Limb-girdle muscle... |
OMIM:608099 |
| Myopathy And Diabetes Mellitus |
|
Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Impaired vibratory sensation, Wea... |
ORPHA:2596 |
| Autosomal Recessive Spastic Paraplegia Type 63 |
|
Hypertonia, Skeletal muscle atrophy, Spasticity, Scissor gait |
ORPHA:401805 |
| Merrf |
|
Ataxia, Multiple lipomas, Optic atrophy, Ragged-red muscle fibers, Myopathy |
ORPHA:551 |
| Myopathy, Distal, 5 |
|
Rimmed vacuoles, Distal amyotrophy, Muscle fiber splitting, Facial palsy, Myopathy |
OMIM:617030 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Distal amyotrophy, Frequent falls, Tremor, Gait ataxia, Spastic... |
OMIM:607317 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis |
OMIM:182610 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Joint stiffness, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involunt... |
ORPHA:98810 |
| Spinal Muscular Atrophy With Microcephaly And Mental Subnormality |
|
Proximal spinal muscular atrophy |
OMIM:271110 |
| Gne Myopathy |
|
EMG: myopathic abnormalities, Scapular winging, Increased variability in muscle fiber diameter, R... |
ORPHA:602 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Impaired vibratory sensation, Rimmed vacuoles, Babinski sign, Increased variability in muscle fib... |
OMIM:616924 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations, Skeletal muscle atrophy |
ORPHA:85162 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia, Skeletal muscle atrophy |
OMIM:158500 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal upper limb muscle weakness, Weakness of facial musculature, Distal sensory impairment, Foo... |
OMIM:619519 |
| Nemaline Myopathy 5 |
|
Hip contracture, Nemaline bodies, Decreased hip abduction, Z-band streaming, Type 1 muscle fiber ... |
OMIM:605355 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Scap... |
OMIM:617158 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Difficulty walking, Progressive spastic paraplegia, Limb tremor, Spastic gait, Low... |
ORPHA:401820 |
| Nonaka Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Distal amyotrophy, Gait disturbance, Deposits immu... |
OMIM:605820 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Limitation of movement at ankles, Impaired vibratory sensation, Babinski sign, Spastic paraplegia... |
ORPHA:100988 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Clumsiness, Amyotrophy of ankle musculature, Joint contracture of ... |
ORPHA:399086 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
| Mast Syndrome |
|
Spastic paraparesis, Babinski sign, Lower limb muscle weakness, Spastic paraplegia, Gait disturba... |
OMIM:248900 |
| Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Hand tremor, Calf musc... |
OMIM:271150 |
| Lethal Congenital Contracture Syndrome 3 |
|
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:611369 |
| Scapuloperoneal Myopathy, Myh7-Related |
|
EMG: myopathic abnormalities, Weakness of facial musculature, Scapuloperoneal myopathy, Myopathy |
OMIM:181430 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Limb muscle weakness, Progressive gait atax... |
OMIM:607458 |
| Dysequilibrium Syndrome |
|
Gait disturbance, Cerebral palsy, Ataxia, Skeletal muscle atrophy |
ORPHA:1766 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Nemaline Myopathy 6 |
|
Gait disturbance, Nemaline bodies, Limb muscle weakness, Myopathy |
OMIM:609273 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Distal amyotrophy, Gait ataxia... |
OMIM:611302 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Ulnar claw, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrop... |
OMIM:606595 |
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
Spinal muscular atrophy, Unsteady gait, Distal sensory impairment, Distal amyotrophy |
OMIM:300489 |
| Spinocerebellar Ataxia Type 43 |
|
Progressive cerebellar ataxia, Distal upper limb muscle weakness, Limb ataxia, Distal sensory imp... |
ORPHA:497764 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Intrinsic hand muscle atrophy, Decreased motor nerve conduction v... |
OMIM:616688 |
| Behr Syndrome |
|
Hamstring contractures, Ataxia, Dysmetria, Babinski sign, Adductor longus contractures, Progressi... |
OMIM:210000 |
| Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Spastic tetraplegia, Arthrogryposis multipl... |
OMIM:618285 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
| Leber Hereditary Optic Neuropathy |
|
Optic atrophy, Ataxia, Myopathy, Postural tremor |
ORPHA:104 |
| Myopathy, Distal, 4 |
|
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... |
OMIM:614065 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Metaphyseal chondrodysplasia |
OMIM:300660 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... |
OMIM:105550 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor ner... |
OMIM:609260 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, First dorsal interossei muscle atrophy, Thenar muscle weakness, Dis... |
ORPHA:139536 |
| Spastic Paraplegia 2, X-Linked |
|
Loss of ambulation, Dysmetria, Flexion contracture, Babinski sign, Lower limb muscle weakness, Sp... |
OMIM:312920 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Talipes equinovarus, Spastic paraplegia, Gait disturbance, Spasticity, Skeletal muscle atrophy |
OMIM:615683 |
| Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Degeneration of anterior horn cells, Spinal muscular atrophy, Tongue fasciculations,... |
OMIM:253550 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of the upper limb, Tremor, Distal upper limb amy... |
ORPHA:65684 |
| Gemignani Syndrome |
|
Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation |
ORPHA:2074 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Foot dorsiflexor weakness, Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Progressive... |
ORPHA:496756 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Arthrogryposis, Distal, Type 1B |
|
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Distal arthrogryposis, Arthrog... |
OMIM:614335 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Distal lower limb muscle weakness, Hip contracture, Talipes equinovarus, Tip-to... |
OMIM:615290 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Hand muscle ... |
ORPHA:435387 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis, Myopathy, Proximal amyotrophy |
OMIM:262900 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Distal sensory impairment, Distal amyotr... |
OMIM:616040 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations, ... |
OMIM:183050 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor, Palmoplantar hyperkeratosis |
OMIM:309560 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Foot dorsiflexor weakness, Tremo... |
OMIM:618387 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Talipes equinovarus, Tip-toe gait, Babinski sign, Lower limb amyotrophy, Progressive spastic para... |
ORPHA:496689 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of the Achilles tendon, Inability to walk, Babinski sign, Spastic paraplegia, Optic a... |
ORPHA:431329 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... |
ORPHA:251282 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Ataxia, Myopathy |
ORPHA:2579 |
| Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, ... |
OMIM:609200 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Imp... |
ORPHA:101075 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Ragged-red muscle... |
OMIM:500003 |
| Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
| Myopathy, Myosin Storage, Autosomal Dominant |
|
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... |
OMIM:608358 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:614751 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talipes equinovaru... |
OMIM:260300 |
| Myopathy, Distal, 3 |
|
Clumsiness, Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimm... |
OMIM:610099 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Degeneration of anterior horn cells, Facial palsy, Fasciculations, Progressive distal ... |
OMIM:159950 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Ankle clonus, Babinski si... |
OMIM:613954 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... |
OMIM:607483 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... |
ORPHA:352675 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Foot dorsiflexor weakness, Distal sensory impairment, Neuromyotonia, Fasciculations, Skeletal mus... |
OMIM:137200 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Inability to walk, Limited interphalangeal movement, Weakness of f... |
ORPHA:99948 |
| Partington Syndrome |
|
Flexion contracture, Camptodactyly, Limb dystonia, Focal dystonia, Lower limb spasticity |
OMIM:309510 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Gait disturbance, Muscle fiber splitting, Scapular winging, Myopathy, Proximal amyotrophy |
OMIM:618129 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Flexion contracture, Inguinal hernia, Degeneration of anterior horn ... |
OMIM:301830 |
| Nemaline Myopathy 7 |
|
Nemaline bodies, Weakness of facial musculature, Minicore myopathy, Frequent falls, Gait disturba... |
OMIM:610687 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Distal lower limb muscle weakness, Spinal muscular atrophy, Interosseus muscle atrophy, Distal am... |
OMIM:607088 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... |
OMIM:607678 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Ulnar claw, Flexion contracture, Proximal muscle weakness in lower limbs, Decreased motor nerve c... |
OMIM:607706 |
| Myopathy, Myofibrillar, 5 |
|
Muscle fiber splitting, Myofibrillar myopathy, Waddling gait, Muscle fiber cytoplasmatic inclusio... |
OMIM:609524 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... |
ORPHA:101076 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Quadriceps muscle weakness, Babinski sign, Paresis of extensor muscles of the big toe, Optic atro... |
ORPHA:99947 |
| Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Ataxia, Dysmetria, Babinski sign, Distal sensory impairment, Lower limb muscle weakness, Spastic ... |
OMIM:616907 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Lower limb amyotrophy, Lower limb muscle weakness... |
OMIM:610357 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Difficulty walking, Spasticity, Myopathy |
OMIM:618242 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation, S... |
ORPHA:101078 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Distal sensory impairmen... |
OMIM:612954 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... |
ORPHA:101097 |
| Hyperekplexia 4 |
|
Hypertonia, Talipes equinovarus, Flexion contracture, Inguinal hernia, Adducted thumb, Myoclonus,... |
OMIM:618011 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotr... |
OMIM:614436 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
| Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Bradykinesia, Flexion contracture, EMG: myopathic abnormalities, Increased varia... |
ORPHA:171442 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign, Foot dorsiflexor weakness, Spinal muscu... |
OMIM:605726 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Action tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medicat... |
ORPHA:254886 |
| Caribbean Parkinsonism |
|
Action tremor, Bradykinesia, Abnormal autonomic nervous system physiology, Orthostatic hypotensio... |
ORPHA:97355 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Gait ataxia, Short thumb, Generalized amyotrophy |
OMIM:616540 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Proximal amyotrophy, Spinal muscular atrophy |
OMIM:271200 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Lower limb muscle weakness, Spastic par... |
OMIM:619686 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Foot dorsiflexor weakness,... |
OMIM:613287 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Loss of ambulation, Increased endomysial connective tissue, Proximal muscle weakness in lower lim... |
OMIM:615424 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy |
OMIM:205250 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Babinski sign... |
ORPHA:444099 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Distal amyotro... |
OMIM:615643 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Upper limb spasticity, Impaired vibration sensation in the lower limbs, Babinski sign, Upper limb... |
OMIM:270800 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Hand muscle atrophy, Spasticity of facial m... |
OMIM:205100 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Inability to walk, Distal upper limb muscle weakness, Split hand, Decreased motor nerve conductio... |
ORPHA:99950 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Inability to walk, Type 1 muscle fiber predominance, Tetraparesis, Spasticity, Tongue fas... |
OMIM:618276 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... |
ORPHA:329478 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Impaired vibration sensation at ankles, Amyotrophy of ankle musculature, Intrinsic hand muscle at... |
ORPHA:90103 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
| Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Elbow flexion contracture, Waddling gait, Skeletal muscl... |
ORPHA:97244 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Abnormality of the hand, Foot dorsiflexor weakness, Distal sensory impairment, Tremor, Ankle flex... |
OMIM:616668 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Spinal muscular atrophy |
OMIM:271109 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Loss of ambulation, Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle... |
OMIM:254110 |
| Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy |
OMIM:604454 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Clumsiness, Bradykinesia, Flexion contracture, EMG: myopathic a... |
ORPHA:171439 |
| Myopathy With Giant Abnormal Mitochondria |
|
Limb-girdle muscle atrophy, Myopathy |
OMIM:255140 |
| Amish Nemaline Myopathy |
|
Hip contracture, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Tremor, Shoulder... |
ORPHA:98902 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation |
ORPHA:2815 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Babinski sign, Distal amyotrophy, Optic atrophy, Difficulty walking, Progressive spastic parapleg... |
ORPHA:468661 |
| Myopathy, Distal, With Anterior Tibial Onset |
|
Myopathy, Distal amyotrophy |
OMIM:606768 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Flexion contracture, Joint hypermobility |
OMIM:618323 |
| Carnitine Deficiency, Myopathic |
|
Reduced muscle carnitine level, Myopathy |
OMIM:212160 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Talip... |
OMIM:128230 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy |
OMIM:608030 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short... |
OMIM:615170 |
| Masa Syndrome |
|
Clinodactyly of the 5th finger, Hemiplegia/hemiparesis, Camptodactyly of finger, Spastic parapleg... |
ORPHA:2466 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Gait dis... |
ORPHA:1878 |
| Nemaline Myopathy 2 |
|
Inability to walk, Weakness of facial musculature, Increased variability in muscle fiber diameter... |
OMIM:256030 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... |
ORPHA:352641 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Inability to walk, Flexion contracture of finger, Limb ataxia, Proximal muscle weakness in lower ... |
ORPHA:101085 |
| Neurologic Disease, Infantile Multisystem, With Osseous Fragility |
|
Recurrent fractures, Osteoporosis, Hip subluxation, Hip dislocation, Skeletal muscle atrophy, Tet... |
OMIM:256720 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Facial diplegia, Tip-toe gait, EMG: myopathic abnormalit... |
ORPHA:370980 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Lower limb pain, Upper limb pain, Spastic paraplegia, Abnormality of peripheral nerv... |
ORPHA:101005 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... |
OMIM:302801 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Osteoarthritis, Abnormality of the epiphyses of the feet, Ge... |
ORPHA:166002 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Talipes equinovarus, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongu... |
OMIM:607596 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyot... |
OMIM:180800 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb muscle weakness, Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankl... |
ORPHA:100984 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Ragged-red muscle fibers, Involuntary movements, Tongue fasciculations, Skeletal muscle atrophy, ... |
OMIM:300816 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... |
OMIM:617282 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Multiple joint contractures, Loss of ambulation, Bradykinesia, Ankle clon... |
ORPHA:521406 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... |
OMIM:604286 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Myopathy |
OMIM:551500 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Foot dorsiflexor weakness, Spinal muscular atrophy, Optic atrophy, Distal amyotrophy, Spa... |
OMIM:617207 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Flexion contracture, Generalized weakness of limb muscles, Limb-girdle muscle weakness, Scapular ... |
ORPHA:353327 |
| Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:612577 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb muscle weakness, Spast... |
OMIM:600363 |
| Bethlem Myopathy 2 |
|
Flexion contracture, Distal joint laxity, Increased variability in muscle fiber diameter, Atrophi... |
OMIM:616471 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Inability to walk, Increased endomysial connective tissue, Limited knee flexion/extension, EMG: m... |
ORPHA:266 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Opt... |
ORPHA:254343 |
| Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb hypertonia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb... |
ORPHA:171863 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait disturbance, Fa... |
OMIM:604484 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Distal amyotrophy |
OMIM:619099 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Waddling gait, Unsteady gait, Li... |
OMIM:612937 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Talipes equinovarus, Joint contracture of the hand, Distal amyotrophy, Abnormal lower motor neuro... |
OMIM:611067 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy, Freq... |
OMIM:618438 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait, Type 2 muscle ... |
OMIM:619028 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Type 1 muscle fiber... |
ORPHA:424107 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials |
OMIM:618876 |
| Marinesco-Sjögren Syndrome |
|
Hypertonia, Ataxia, Abnormality of finger, Coxa valga, Muscular dystrophy, Hip dysplasia, Rigidit... |
ORPHA:559 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Distal upper limb muscle weakness, Skeletal muscle hypertrophy, Proximal musc... |
OMIM:619566 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Muscular dystrophy, Truncal ataxia, Chorea, Difficulty walking, Waddling ga... |
ORPHA:369840 |
| X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochok... |
ORPHA:1175 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Increased intramyocellular lipid droplets, Tremor |
OMIM:612016 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Lower limb muscle wea... |
ORPHA:225154 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Broad-based gait, Ulnar deviation of the hand, Joint contracture of the hand, Positive Romberg si... |
OMIM:258650 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
| Myopathy, Congenital, With Tremor |
|
Flexion contracture, Tongue tremor, EMG: myopathic abnormalities, Scapular winging, Postural tremor |
OMIM:618524 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... |
OMIM:608323 |
| Multiminicore Myopathy |
|
Joint stiffness, Abnormal muscle fiber morphology, Proximal muscle weakness in lower limbs, Minic... |
ORPHA:598 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased intramyocellular... |
OMIM:614487 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Increased variability in muscle fiber diameter, Babinski sig... |
OMIM:619065 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Ulnar claw, Flexion contracture, Decreased motor nerve conduction velocity, Dist... |
OMIM:607684 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Ataxia, Rigidity, Gait disturbance, Skeletal muscle atrophy, Dystonia |
OMIM:618239 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... |
ORPHA:75840 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Talipes equinovarus, Distal sensory impairment, Difficulty walking, Paralysis, Skeletal muscle at... |
OMIM:613710 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Clinodactyly of the 5th finger, Short thumb, Camptodactyly |
OMIM:618453 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Hamstring contractures, Scapular muscle atrophy, Ankle flexion contracture, Pectoralis amyotrophy... |
ORPHA:267 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Spastic tetraplegia, Dystonia, Myopathy |
OMIM:618237 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Elbow flexion contra... |
ORPHA:306692 |
| Autosomal Recessive Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Inability to walk, Hand tremor, Impaired vibration se... |
ORPHA:209951 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Decreased motor nerve conduction veloc... |
OMIM:601098 |
| Martsolf Syndrome 2 |
|
Spastic diplegia, Camptodactyly of finger, Overlapping toe, Camptodactyly |
OMIM:619420 |
| Nemaline Myopathy 1 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Shoulder gir... |
OMIM:609284 |
| Heart-Hand Syndrome, Slovenian Type |
|
Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly, Clinodactyly, Myopathy |
OMIM:610140 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Ankle flexion contracture, Abnormal muscle fiber morphology, Weakness of facial ... |
ORPHA:1145 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Increased variability in muscle fiber diameter, Optic atrophy, Gait disturbance, Spastici... |
OMIM:125250 |
| Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Autophagic vacuoles, Myopathy |
OMIM:609500 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Skeletal muscle atrophy, Myopathy |
ORPHA:2597 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... |
OMIM:618435 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... |
OMIM:310300 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Myopathy, Facial palsy, Skeletal muscle atrophy, Flexion contracture |
OMIM:616313 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Neutral Lipid Storage Disease With Myopathy |
|
Increased muscle lipid content, Fasciculations, Difficulty walking, Myopathy |
OMIM:610717 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Type 1 muscle fiber predominance, Difficul... |
OMIM:609285 |
| Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Progressive cerebellar ataxia, Talipes equinovarus, Intention tremor, Frequent falls, Optic atrop... |
ORPHA:466794 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Osteomyelitis, Decreased sensory nerve conduction velocity, Hand tremor, Decreased motor nerve co... |
OMIM:162400 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Ulnar claw, Foot dorsiflexor weakness, Distal amyotrophy, Gait disturbance, Hammertoe, Decreased ... |
OMIM:618400 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... |
OMIM:616981 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... |
ORPHA:397744 |
| Distal Myotilinopathy |
|
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Loss of ability to ... |
ORPHA:98911 |
| Marinesco-Sjogren Syndrome |
|
Ataxia, Coxa valga, Limb ataxia, Flexion contracture, Rimmed vacuoles, Gait ataxia, Cubitus valgu... |
OMIM:248800 |
| Acetyl-Coa Carboxylase Deficiency |
|
Myopathy |
OMIM:613933 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Lower limb muscle weakness, Frequent fa... |
ORPHA:2590 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Talipes equinovarus, Nonprogressive muscular atrophy, Spinal muscular atrophy, D... |
OMIM:600175 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction ve... |
ORPHA:101081 |
| Inclusion Body Myositis |
|
Rimmed vacuoles, Inflammatory myopathy |
OMIM:147421 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Ataxia, Reduced intraabdominal adipose tissue, Myoclonus, Ab... |
ORPHA:363400 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
| Autosomal Dominant Spastic Paraplegia Type 19 |
|
Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Lower limb amyotroph... |
ORPHA:100999 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Spondylocamptodactyly |
|
Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
| Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Multiple lipomas, Osteoporosis, Skeletal muscle atrophy, Limitation of j... |
ORPHA:3294 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Limb fasciculations, Distal lower limb amyotrophy, Achilles tendon contractu... |
ORPHA:324442 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Intrinsic hand muscle atrophy, Areflexia of upper limbs, Foot dorsiflexor weakness, Polyminimyocl... |
OMIM:619574 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Talipes equinovarus, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Foot dorsiflexo... |
OMIM:620011 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Camptodactyly of finger, Optic atrophy, Gait ataxia, Flexion contracture of toe, Slurred speech |
OMIM:619323 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Babinski sign, Head titub... |
OMIM:615491 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Abnormal pyramidal sign, Fasciculations, Dista... |
OMIM:608627 |
| Leber Optic Atrophy And Dystonia |
|
Bradykinesia, Athetosis, Optic atrophy, Spasticity, Upper motor neuron dysfunction, Skeletal musc... |
OMIM:500001 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Spastic tetraparesis, Skeletal muscle atrophy, Flexion contracture, Spinal muscular atrophy |
OMIM:616081 |
| Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Facial palsy, Myopathy |
OMIM:253320 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spasticity, Dyst... |
OMIM:614254 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Babinski sign, Foot dorsiflexor weakness, Spastic paraplegia, Tremor, Gai... |
OMIM:616586 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Distal amyotrophy |
OMIM:608673 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Fetal Akinesia Deformation Sequence 4 |
|
Flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita, Rocker bottom foot, Skele... |
OMIM:618393 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... |
ORPHA:276198 |
| Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Skeletal muscle atrophy |
OMIM:613402 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Distal... |
ORPHA:313772 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses |
OMIM:264010 |
| Dystonia 16 |
|
Torticollis, Bradykinesia, Lower limb pain, Abnormal pyramidal sign, Parkinsonism, Unsteady gait,... |
ORPHA:210571 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Hammerto... |
OMIM:615376 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Lower-limb joint contracture, Upper-lim... |
ORPHA:300605 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Sensory ataxia, Decreased motor nerve conduction velocity, Distal sensory impairment, Difficulty ... |
OMIM:614895 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dysmetria, Inguinal hernia, Dysdiadochokinesis, Interosseus muscle atrophy, Fiber type grouping, ... |
OMIM:619903 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Optic at... |
OMIM:270500 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
| Myopathy, Proximal, With Ophthalmoplegia |
|
Muscle fiber inclusion bodies, Waddling gait, Scapular winging, Congenital contracture, Myopathy |
OMIM:605637 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Upper limb muscle w... |
OMIM:605253 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Skeletal muscle atrophy, Spasticity |
OMIM:614808 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Hammertoe, Impaired distal vibratio... |
OMIM:610100 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Babinski sign, Distal amyotrophy, Abnorma... |
OMIM:602099 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Dystonia |
OMIM:618497 |
| X-Linked Immunoneurologic Disorder |
|
Hypertonia, Hemiplegia/hemiparesis, Myopathy |
ORPHA:2571 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle weakness, Inability to walk, Distal upper limb muscle weakness, Pelvic girdle muscle ... |
ORPHA:98856 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Limb-girdle muscle weakness, Gait disturbance, Difficulty walking, M... |
ORPHA:352470 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, ... |
OMIM:118210 |
| Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Elbow flexion contracture, Spastic tet... |
OMIM:619470 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Flexion contracture of finger, Sensory ataxia, Decreased sensory nerve ... |
OMIM:609033 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Optic atrophy, Fasciculations |
OMIM:611721 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Ankle flexion contracture, Flexion contracture, Upper limb muscle weakness, Lowe... |
ORPHA:1143 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Upper limb muscle weakness, Distal amyotrophy, Distal sensory impairment, Steppage gait |
OMIM:607677 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Increased variability in mu... |
ORPHA:401768 |
| Oculopharyngodistal Myopathy 3 |
|
Ataxia, Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weak... |
OMIM:619473 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Clumsiness, Flexion contracture, Muscular dystrophy, Scapular winging, Myositis, Lower limb muscl... |
OMIM:253600 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... |
ORPHA:86812 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Talipes equinovarus, Impaired vibration sensation in the lower limbs, Limb hypertonia, Lower limb... |
ORPHA:401815 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Giant somatosensory evoked potentials, Tremor, Difficulty walking, Enhancement of the ... |
OMIM:613608 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Hypertonia, Dystonia, Myopathy |
ORPHA:26792 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Myopathy |
ORPHA:88635 |
| Distal Nebulin Myopathy |
|
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... |
ORPHA:399103 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Foot dorsiflexor weakness, Distal amyotrophy, Distal sensory impairment, Steppage gait |
OMIM:607731 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Tremor, Difficulty walking, Abnormality of somatosensory evoked... |
ORPHA:206594 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Bone pain, Recurrent fractures, Increased spinal bone density, Babinski sign, Limb fasciculations... |
ORPHA:329475 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... |
OMIM:619862 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Myopathy |
OMIM:212130 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Lower limb muscle weakness, Progressive spasti... |
ORPHA:306511 |
| Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Impaired proprioception, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, ... |
ORPHA:98755 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
| Fingerprint Body Myopathy |
|
Myopathy |
OMIM:305550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalit... |
OMIM:606612 |
| Batten-Turner Congenital Myopathy |
|
Myopathy |
OMIM:255300 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Joint hyperflexibility, Gait disturbance, Skeletal muscle atrophy, Limitatio... |
ORPHA:157973 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity |
OMIM:617854 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, Distal s... |
OMIM:118300 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Loss of ambulation, Decreased cervical spine flexion due to contractures of posterior cervical mu... |
ORPHA:254361 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Palmar hyperkeratosis, Diffuse palmoplantar hyperker... |
ORPHA:2199 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Loss of ambulation, EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in mu... |
OMIM:253601 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Hereditary Geniospasm |
|
Chin myoclonus, Abnormality of mentalis muscle |
ORPHA:53372 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Broad-based gait, Babinski sign, Distal amyotrophy, Spasticity, Arthrogryposis multiplex congenit... |
OMIM:162370 |
| Leber Optic Atrophy |
|
Optic neuropathy, Ataxia, Optic atrophy, Postural tremor, Dystonia, Myopathy |
OMIM:535000 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Increased endomysial connective tissue, Tip-toe gait, Right ventricular hypertr... |
ORPHA:353 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia, Hypomimic face |
OMIM:128235 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... |
ORPHA:34516 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Decreased nerve conduction velocity, EMG: myopathic abnormalities, Lower limb ... |
ORPHA:99939 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... |
ORPHA:488650 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy... |
OMIM:608840 |
| Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, EMG: myopathic abnormalities, Increased variability in muscle fib... |
OMIM:619790 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, Talipes equinovarus, EMG: myopathic abnormalities, Facial palsy, Increased... |
OMIM:614399 |
| Perching Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:617055 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Talipes equinovarus, Distal upper lim... |
ORPHA:99953 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... |
ORPHA:98863 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Pseudopapilledema, Tetraparesis, Paralysis |
ORPHA:140989 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Thenar muscle atrophy, Sensory ataxia, Distal upper limb muscle weakness, Spastic paraparesis, Im... |
OMIM:500013 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Dysmetria, Rigidity, Falls, Gait ataxia, Unsteady gait, Dystonia, Generalized amyotrophy |
OMIM:203740 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Joint stiffness, Decreased cervical spine flexion due to contractures of posterior cervical muscl... |
ORPHA:98853 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Optic atrophy, Tremor, Difficulty walking, Skeletal muscle ... |
ORPHA:330050 |
| Autosomal Dominant Spastic Paraplegia Type 38 |
|
Distal lower limb muscle weakness, Amyotrophy of ankle musculature, Impaired vibration sensation ... |
ORPHA:171617 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Ataxia, Dysmetria, Tip-toe gait, Babinski sign, Distal amyotrophy, Spastic paraplegia, Frequent f... |
OMIM:609195 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Facial myokymia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Myopathy |
OMIM:607091 |
| Legg-Calvé-Perthes Disease |
|
Avascular necrosis, Delayed skeletal maturation, Skeletal muscle atrophy |
ORPHA:2380 |
| Spastic Paraplegia 16, X-Linked |
|
Short distal phalanx of finger, Babinski sign, Lower limb amyotrophy, Lower limb muscle weakness,... |
OMIM:300266 |
| Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency |
|
Myopathy |
OMIM:616314 |
| Myopathy, Congenital Proximal, With Minicore Lesions |
|
Z-band streaming, Minicore myopathy, Type 1 muscle fiber predominance, Fatty replacement of skele... |
OMIM:618823 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... |
OMIM:606183 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy |
OMIM:607734 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Distal amyotrophy |
OMIM:182815 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Talipes equinovarus, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue... |
OMIM:616827 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
| Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Centrally nucleated skeletal muscle fibers, Scapular winging, Hand muscle atroph... |
OMIM:616852 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response, Impaired vibration sensation in the lo... |
ORPHA:320406 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia |
OMIM:608105 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
| Bethlem Myopathy |
|
Multiple joint contractures, Quadriceps muscle weakness, Difficulty walking, Achilles tendon cont... |
ORPHA:610 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis |
OMIM:616230 |
| Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Myopathy, Scapulohumeral muscular dystrophy |
OMIM:160570 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Myoclonus, Elbow flexion contracture, Knee flexion contracture |
OMIM:619303 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis, Knee flexion contracture, Arthrogryposis multiplex congenita, Skeleta... |
OMIM:616286 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Spast... |
OMIM:105400 |
| Adrenoleukodystrophy |
|
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Lower limb musc... |
OMIM:300100 |
| Myopathy, Centronuclear, 1 |
|
Flexion contracture, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Type 1 muscle fib... |
OMIM:160150 |
| Oculopharyngeal Muscular Dystrophy |
|
Ragged-red muscle fibers, Rimmed vacuoles, Abnormal muscle fiber morphology, Myopathy |
ORPHA:270 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Muscular dystrophy, Congenital muscular dystrophy, Waddling gait, Facial palsy, Myopathy |
OMIM:602541 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy |
ORPHA:1216 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Ataxia, Abnormality of toe, Muscular dystrophy, Progressive distal muscular atrophy, Somatic sens... |
ORPHA:459033 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Increased connective tissue, Involuntary movement... |
ORPHA:238329 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
|
Calf muscle hypertrophy, EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Muscular dy... |
OMIM:611307 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteovalgus |
OMIM:614257 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Abnormal autonomic nervous system physiology, Dysdiadochokinesis, Oculogyric crisis, Park... |
OMIM:618049 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Increased endomysial connective tissue, Limitation of movement at ankles, Increased variability i... |
ORPHA:437572 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Hyperkinetic movements, Truncal ataxia, Chorea, Difficulty walking, Limb-girdle muscular dystroph... |
ORPHA:369847 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Dystonia |
OMIM:617493 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Myopathy |
OMIM:613076 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... |
OMIM:183090 |
| Poliomyelitis |
|
Paraparesis, Inability to walk, Hypoplasia of the musculature, Abnormal skeletal muscle morpholog... |
ORPHA:2912 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis, Paroxysmal... |
OMIM:606777 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
| X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Leg muscle s... |
ORPHA:43 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Flexion contracture, Intention tremor, Myoclonus, Babinski sign, D... |
OMIM:616505 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Inability to walk, Flexion contracture of finger, Proximal muscle weakness in lower limbs, Babins... |
ORPHA:466768 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Limb ataxia, Weakness of facial musculature, Babinski sign, Increased variability in muscle fiber... |
OMIM:258450 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
