Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Broad-based gait, Distal amyotrophy, Skeletal muscle atrophy, Basal lamina on... |
OMIM:614895 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal muscle weakness in lower limbs, Distal sensory impairment, Hand muscle atrophy, Motor ax... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal amyotrophy, Impaired pain sensation, Hand tremor, Difficulty walking, Peripheral demyelina... |
OMIM:618279 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Difficulty walking, Distal sensory impairment, Paraparesis, Tip-toe gait, Hand tr... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreas... |
OMIM:601098 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... |
ORPHA:2932 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Vocal cord paresis, Peripheral demyelination, Distal sen... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakn... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Distal amyotrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Axon... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Tip-toe gait, Fasciculations, Axona... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal lower lim... |
OMIM:615185 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Impaired vibratory sensation, Hypertrophic nerve changes, Decreased motor nerve conduction veloci... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Axonal, Type 2U |
|
Distal amyotrophy, Hand muscle weakness, Difficulty walking, Foot dorsiflexor weakness, Hand musc... |
OMIM:616280 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Difficulty walking, Peripheral demyelination, Positive Romberg sign, Distal sensory impairment, C... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Distal amyotrophy, Basal lamina onion bulb formation, CNS hypomyelina... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... |
OMIM:118210 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve ... |
OMIM:180800 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy, Spastic paraplegia, Somatic sensory dysfunction, Hand muscle atrophy, Loss of ambu... |
OMIM:615658 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Clusters... |
OMIM:607734 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Optic atrophy, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic paraplegia, Knee... |
OMIM:615043 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hand tremor, Fasciculations, Distal sensory impairment, Axonal degeneration, Decreased number of ... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Small hypothenar eminence, Decreased motor nerve conduction velocity, Upper limb muscle weakness,... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... |
OMIM:608323 |
Charcot-Marie-Tooth Disease Type 4G |
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Impaired vibratory sensation, Distal amyotrophy, Decreased motor nerve conduction velocity, Impai... |
ORPHA:99953 |
Spinocerebellar Ataxia Type 43 |
|
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Foot dorsiflexor weakness... |
ORPHA:497764 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Spastic paraplegia, Lower limb muscle weakness, Difficulty walking, Tibialis anter... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... |
OMIM:607677 |
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy |
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Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Inability to w... |
ORPHA:482601 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Distal amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Decreased number of peri... |
OMIM:607731 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Proximal muscle weakness in lower limbs, Distal amyotrophy, Decreased motor nerve conduction velo... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Ankle flexion contracture, Decreased motor nerve conduction velocity, Decreased nerve conduction ... |
OMIM:611228 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Lower limb muscle weakness, Hand tremor, Difficulty walking, Decreased nerve conduction velocity,... |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Distal amyotrophy, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral... |
OMIM:606482 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, I... |
OMIM:617672 |
Neuronopathy, Distal Hereditary Motor, X-Linked |
|
Abnormal peripheral nervous system morphology, Distal amyotrophy, Distal sensory impairment, Spin... |
OMIM:300489 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct... |
ORPHA:90103 |
Null Syndrome |
|
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Decreased... |
ORPHA:280234 |
Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... |
OMIM:614877 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Hypertrophic nerve changes, Tongue fasciculations, Distal amyotrophy, Decreased motor nerve condu... |
OMIM:145900 |
Miyoshi Myopathy |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Tip-toe gait, Shoulder girdl... |
ORPHA:45448 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal amyotrop... |
OMIM:607706 |
Spastic Paraplegia 38, Autosomal Dominant |
|
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Impaired vibration sensation i... |
OMIM:612335 |
Amyotrophic Lateral Sclerosis Type 4 |
|
Spastic paraplegia, Skeletal muscle atrophy, Somatic sensory dysfunction, Babinski sign, Abnormal... |
ORPHA:357043 |
Autosomal Spastic Paraplegia Type 30 |
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Diffuse cerebellar atrophy, Distal amyotrophy, Leg muscle stiffness, Somatic sensory dysfunction,... |
ORPHA:101010 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Periphe... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... |
OMIM:608340 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Distal amyotrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Stepp... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Distal amyotro... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Steppage gait, Foot dorsiflexor weakness, Distal sensory impairment |
OMIM:616039 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Proximal muscle weakness in lower limbs, Broad-based gait, Difficulty walking, Impaired vibration... |
ORPHA:435387 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Skeletal muscle atrophy, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia,... |
OMIM:611105 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Distal amyotrophy, Demyelinating sensory neuropathy, Upper limb muscle weakness, Somatic sensory ... |
ORPHA:99939 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Distal se... |
ORPHA:99944 |
Charcot-Marie-Tooth Disease Type 1A |
|
Spontaneous pain sensation, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, P... |
ORPHA:101081 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Impaired vibratory sensation, Ankle flexion contracture, Distal amyotrophy, Spasticity, Spastic p... |
ORPHA:320370 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Distal amyotrophy, Amyotrophic lateral sclerosis, Difficulty walking, Decreased compound muscle a... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... |
OMIM:605588 |
Spastic Paraplegia 73, Autosomal Dominant |
|
Spastic paraplegia, Skeletal muscle atrophy, Difficulty walking, Prolonged central motor conducti... |
OMIM:616282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Impaired pain sens... |
OMIM:607684 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity, Impaired pain sensation, Tremor, Paraparesis, ... |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb mu... |
OMIM:118220 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Scissor gait, Gait disturbance, Clonu... |
OMIM:615686 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Somatic sensory dysfunction, Amyotr... |
OMIM:612577 |
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 |
|
Shuffling gait, Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy... |
ORPHA:219 |
Charcot-Marie-Tooth Disease Type 4A |
|
Joint contracture of the hand, Distal amyotrophy, Impaired pain sensation, Quadriceps muscle weak... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Fascic... |
OMIM:600882 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal lower limb amyotrophy, Claw... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... |
OMIM:302802 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Distal amyotrophy, Skeletal muscle atrophy, Impaired pain sensation... |
ORPHA:3115 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Distal amyotrophy, Distal sensory impairment, Gait disturbance, Segmental peripher... |
OMIM:311070 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Distal amyotrophy, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairmen... |
OMIM:208920 |
Hereditary Motor And Sensory Neuropathy V |
|
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Lim... |
OMIM:600361 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Q |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Difficulty walking, Distal lower limb muscl... |
OMIM:615025 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Foo... |
OMIM:606595 |
Charcot-Marie-Tooth Disease Type 1F |
|
Proximal muscle weakness in lower limbs, Demyelinating sensory neuropathy, Head tremor, Positive ... |
ORPHA:101085 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Inability ... |
OMIM:618184 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakne... |
ORPHA:139536 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal amyotrophy, Peripheral demyelination, Axonal degeneration/regeneration, Foot dorsiflexor w... |
OMIM:607736 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Somatic sensory dysfun... |
OMIM:158600 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Ga... |
ORPHA:101078 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 1 |
|
Distal amyotrophy, Upper limb muscle weakness, Chronic axonal neuropathy, Babinski sign, Hyperton... |
OMIM:182960 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Distal amyotrophy, Decreased amplitude of sensory action potentials, Distal sensory impairment, P... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Decreased motor ... |
OMIM:620068 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Decreased motor nerv... |
OMIM:607250 |
Spinal Muscular Atrophy, Type Iii |
|
Shoulder girdle muscle atrophy, Tongue fasciculations, Distal amyotrophy, Lower limb muscle weakn... |
OMIM:253400 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Distal amyotrophy, Falls, Failure to thrive, Foot dorsiflexor weakness, Ha... |
OMIM:618811 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Impaired pain sensation, Distal lower limb amyotrophy, Distal... |
ORPHA:101075 |
Spinocerebellar Ataxia 43 |
|
Distal amyotrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment... |
OMIM:617018 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Froment sign, Decreased motor nerve conduction velocity, Hand muscle weakness, Hand paresthesia, ... |
OMIM:162500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia... |
OMIM:615157 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dista... |
OMIM:610250 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Peripher... |
OMIM:617087 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to ... |
OMIM:615490 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal amyotrophy, Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory i... |
OMIM:607791 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Spasticity, Skeletal muscle atrophy, Tip-toe gait, Fasciculations, Difficulty walking, Ankle clon... |
OMIM:615681 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5 |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Distal sensory impairment, Spinal muscul... |
OMIM:614881 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... |
OMIM:615284 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... |
ORPHA:397946 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Babinski sign, Low... |
ORPHA:401820 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraparesis, Foot dorsi... |
ORPHA:496756 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Decreased motor nerve cond... |
OMIM:618912 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Progressive cerebellar ataxia, Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper... |
ORPHA:275872 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Difficulty walking, Foot dorsiflexo... |
OMIM:604563 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, H... |
ORPHA:2386 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Cerebral atrophy, Tetraparesis, Abnormal ... |
OMIM:105550 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Skeletal muscle atrophy, Tip-toe gait, Difficulty walking, Knee flexion contracture, Lower limb s... |
ORPHA:401785 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Difficulty walking, Thenar muscle atrophy, Decreased motor nerve conduction velocity, Distal sens... |
OMIM:620111 |
Monomelic Amyotrophy |
|
Tremor, Distal upper limb amyotrophy, Abnormality of peripheral nerve conduction, Degeneration of... |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, D... |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... |
OMIM:616155 |
Autosomal Recessive Spastic Paraplegia Type 63 |
|
Spasticity, Skeletal muscle atrophy, Decreased body weight, Scissor gait, Hypertonia |
ORPHA:401805 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Distal lower limb muscle weakness, Acute demyelinating polyneuropathy, Onion bulb formation, Unst... |
ORPHA:98916 |
Adult Krabbe Disease |
|
Spasticity, Broad-based gait, Lower limb muscle weakness, Tetraparesis, Peripheral demyelination,... |
ORPHA:206448 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia, Loss of ambulation, B... |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal amyotrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Claw... |
OMIM:601455 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Proximal... |
OMIM:618138 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Skeletal muscle atrophy, Foot joint contracture, Cerebr... |
ORPHA:457205 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... |
OMIM:605253 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Distal amyotrophy, Demyelinating sensory neuropathy, Demyelinating motor neur... |
OMIM:182815 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Impaired pain sensation, Lower limb muscle weakness, Impaired temperature sensation, Distal lower... |
ORPHA:99940 |
Charcot-Marie-Tooth Disease And Deafness |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Thenar muscle weakness, Limb muscle... |
OMIM:118300 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Global brain atrophy, Skeletal muscle atrophy, Failure to thri... |
OMIM:618276 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd |
|
Steppage gait, Distal amyotrophy, Foot dorsiflexor weakness, Impaired distal vibration sensation |
OMIM:618036 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Difficulty walking, Spinal... |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Axonal, Type 2W |
|
Distal amyotrophy, Gait disturbance, Steppage gait, Distal sensory impairment |
OMIM:616625 |
Spastic Paraplegia 42, Autosomal Dominant |
|
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign |
OMIM:612539 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... |
OMIM:616040 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Inability to walk, Ankle... |
OMIM:611225 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Limb muscle weakness, Dys... |
OMIM:607458 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Fasciculations, Difficulty walking, Tremor, Distal sensory impairment, S... |
OMIM:615048 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Distal lower limb amyotrophy, A... |
ORPHA:431329 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... |
OMIM:617158 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb muscle weakness, Thenar ... |
OMIM:270685 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... |
ORPHA:99950 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, M... |
OMIM:221770 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Decreased motor nerve conduction velocity, Cerebral atrophy, Chorea, Peripheral demyelina... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... |
OMIM:607678 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic atrophy, Upper limb muscle weakness, Impaired pain sensation, Lower limb muscle weakness, P... |
OMIM:618511 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Difficulty walking, Impaired vi... |
ORPHA:320406 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Difficulty walking, Distal lower limb amyotrophy, Decreased compound muscle action potential ampl... |
OMIM:619112 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Frequent falls, Foot dorsiflexor weakn... |
OMIM:620011 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Pontoc... |
OMIM:616053 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Postural tremor, Ab... |
ORPHA:100998 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Peroneal muscle atrophy, Thenar muscle atrophy, Peroneal muscle weakness, Decreased motor nerve c... |
OMIM:614751 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Gait ataxia, Intention tremor, Optic disc pal... |
ORPHA:98890 |
Juvenile Primary Lateral Sclerosis |
|
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Gait imbalance, Abno... |
ORPHA:247604 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Spastic paraplegia, Skeletal muscle atrophy, Tip-toe gait, Lower limb ... |
OMIM:604360 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Decr... |
OMIM:604320 |
Spinocerebellar Ataxia Type 25 |
|
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Faci... |
ORPHA:101111 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Abnormal lower-limb motor evoked potentials, Progressive spastic paraplegia, Progressive spastic ... |
ORPHA:444099 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Peri... |
OMIM:610357 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Spasticity, Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Ankle clonus, Ba... |
ORPHA:100985 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Abnormal motor nerve conduction velocity, Distal amyotrophy, Tremor |
OMIM:158580 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Joint contracture of the hand, Broad-based gait, Skeletal muscle atrophy, Impaired... |
OMIM:609033 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c... |
OMIM:616668 |
Spinal Muscular Atrophy, Type Iv |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:271150 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Spastic paraparesis, Tip-toe gait, Bradykinesia, Neurodegeneration, Motor axon... |
OMIM:615643 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Decreased motor... |
OMIM:616687 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity... |
OMIM:618404 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Peripheral dysmyelination, Decreased nerve ... |
ORPHA:101082 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Limb ataxia, Gait ataxia, Ankle clonus, Babi... |
ORPHA:488594 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Mitochondrial Myopathy With Diabetes |
|
Weakness of orbicularis oculi muscle, Difficulty walking, Limb muscle weakness, Ragged-red muscle... |
OMIM:500002 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Loss of ambulation, Proximal ... |
OMIM:182980 |
Spastic Paraplegia 2, X-Linked |
|
Optic atrophy, Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Dysmetria... |
OMIM:312920 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... |
OMIM:607641 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Distal amyotrophy, Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Limb muscle... |
OMIM:618387 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... |
OMIM:605726 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty ... |
ORPHA:468661 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... |
OMIM:619519 |
Spastic Paraplegia 76, Autosomal Recessive |
|
Spastic paraplegia, Skeletal muscle atrophy, Sensory axonal neuropathy, Lower limb muscle weaknes... |
OMIM:616907 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Skeletal muscle atrophy, Leukodystrophy, Decreased nerve conduction velocity, Dystonia, Choreoath... |
OMIM:614932 |
Krabbe Disease |
|
Optic atrophy, Failure to thrive, Neurodegeneration, Decreased nerve conduction velocity, Periphe... |
OMIM:245200 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Lower limb muscle weakness, Fasciculations, Ga... |
OMIM:607317 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle weaknes... |
OMIM:614487 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Inability to walk, Decreased ... |
OMIM:218000 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... |
DECIPHER:59 |
Dysequilibrium Syndrome |
|
Gait disturbance, Skeletal muscle atrophy, Cerebral palsy, Ataxia |
ORPHA:1766 |
Spastic Paraplegia 77, Autosomal Recessive |
|
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Babinski sign, Lower ... |
OMIM:617046 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Ataxia, Spasticity, Broad-based gait, Bradykinesia, Inability to walk, Myoclonus, Pontocerebellar... |
OMIM:617854 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Peroneal muscle atrophy, Spasticity, Distal amyotrophy, Spastic gait, Decreased motor nerve condu... |
OMIM:270550 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Gait ataxia, Intention tremor, Pontocerebellar atrophy, Dy... |
ORPHA:423275 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Foot dorsiflexor weakness, Spin... |
OMIM:617207 |
Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Lower limb muscle ... |
OMIM:248900 |
Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Impaired pain sensation, Hemiplegia/hemiparesis, Gait disturbance, Ataxia |
ORPHA:2815 |
Charcot-Marie-Tooth Disease, Axonal, Type 2D |
|
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Distal sensory impairment,... |
OMIM:601472 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Distal amyotrophy, Distal sensory impairment, Decreased nerve condu... |
OMIM:608895 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Progressive cerebellar ataxia, Spasticity, Distal amyotrophy, Cerebral atrophy, Impaired vibratio... |
ORPHA:352641 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Leg muscle stiffness, Bradykinesia, Akinesia, Myoclonus, Distal s... |
OMIM:606693 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Ataxia, Progressive spasticity, Choreoat... |
ORPHA:726 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Difficulty walking, Spina... |
ORPHA:466768 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Foot dorsiflexor weakness, Distal sensory impa... |
OMIM:614455 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... |
OMIM:613641 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Clasp-knife sign, Spastic paraparesis, Decreased motor nerve conduction velocity, Hand tremor, Ha... |
ORPHA:101076 |
Myopathy And Diabetes Mellitus |
|
Impaired vibratory sensation, Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscl... |
ORPHA:2596 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Skeletal muscle atrophy, Ataxia |
OMIM:158500 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Spasticity, Amyotrophic lateral sclerosis, Difficulty walking, Hand muscle atrophy, Abnormal exte... |
OMIM:205100 |
Lethal Congenital Contracture Syndrome 8 |
|
Distal amyotrophy, Facial diplegia, Distal sensory impairment, Peripheral hypomyelination, Distal... |
OMIM:616287 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy |
OMIM:183020 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... |
OMIM:606070 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Generalized amyotrophy, Optic atrophy, Cerebellar atrophy, Spastic ... |
OMIM:619686 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Impaired vibration sensation in the lower limbs, Abnormal sensory nerve condu... |
ORPHA:88628 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Tongue fascicul... |
OMIM:619216 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Abnormal lo... |
ORPHA:95434 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Tremor, Ataxia |
ORPHA:1368 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Optic atrophy, Distal amyotrophy, Decreased nerve conduction velocity, Dysmetria, Distal ... |
OMIM:612674 |
Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... |
OMIM:610532 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Spastic paraplegia, Skeletal muscle atrophy, Babinski sign, Lower limb spasticity,... |
OMIM:613162 |
Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... |
OMIM:607483 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Cerebral cortical atrophy, Ataxia |
ORPHA:1188 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... |
OMIM:620542 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hand tremor, Distal sensory i... |
OMIM:162400 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spastic paraplegia, Spasticity, Distal amyotrophy, Sensory axonal neuropathy, Impaired pain sensa... |
ORPHA:139578 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral axonal neuropathy, Decreased distal sens... |
OMIM:618400 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:613672 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle weaknes... |
ORPHA:313772 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia |
OMIM:183050 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Spasticity, Spastic paraparesis, Cerebellar atrophy, Distal lower limb amyotrophy,... |
OMIM:616680 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Progressive distal muscular atrophy, Tongue fasciculations, Skeletal muscle atrophy, Difficulty w... |
OMIM:159950 |
Spinal Muscular Atrophy, Type Ii |
|
Tongue fasciculations, Skeletal muscle atrophy, Hand tremor, Spinal muscular atrophy, Degeneratio... |
OMIM:253550 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Distal amyotrophy, Difficulty walking, Scapuloperoneal amyotrophy,... |
OMIM:611067 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Cerebral cortical atrophy, Distal amyotrophy, Sensory axonal neuropathy, Cerebella... |
OMIM:271245 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:613954 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Limb ataxia, Distal lower limb amyotrophy, Foot dorsiflexor weakness, ... |
ORPHA:1175 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Fiber type grouping, Tremor, Distal amyotrophy, Distal sensory impairment |
OMIM:614369 |
Nemaline Myopathy 6 |
|
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Gait disturbance, Facia... |
OMIM:609273 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Ataxia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... |
OMIM:616688 |
Gemignani Syndrome |
|
Skeletal muscle atrophy, Impaired pain sensation, Hemiplegia/hemiparesis, Ataxia |
ORPHA:2074 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropa... |
OMIM:613710 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Rimmed vacuoles, Shoulder girdle muscle atrophy, Temporal cortical atrophy, Pelvic girdle muscle ... |
OMIM:167320 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor, Generalized ... |
ORPHA:2589 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Cerebellar atrophy, Somatic sensory dysfunction, Postural tre... |
OMIM:619862 |
Gne Myopathy |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... |
ORPHA:602 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Impaired vibratory sensation, Increased variability in muscle fiber diameter, Se... |
OMIM:616924 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Spastic paraplegia, Skeletal muscle atrophy, Postural tremor, Babin... |
ORPHA:100988 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Rimmed vacuoles, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Difficulty walki... |
ORPHA:600 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Ankle flexion contracture, Decreased nerve conduction velocity, Intrauterine growth retardation, ... |
ORPHA:319514 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrease... |
OMIM:607831 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle... |
ORPHA:98755 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demyelination, Babinski si... |
OMIM:250100 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Rimmed vacuoles, Necrotizing myopathy, Difficulty walking, Decreased nerve conduction velocity, F... |
ORPHA:329478 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Finger joint contracture, Intrauterine growth retardation, Chorea, Par... |
ORPHA:48431 |
Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Decreased ... |
OMIM:608804 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Somatic sensory dysfunction, Neuronal loss in central nervous system, P... |
ORPHA:71211 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations, Proximal amyotrophy, Gait disturbance, Neuronal lo... |
OMIM:608030 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Distal amyotrophy, Tremor, Ataxia |
OMIM:619099 |
Nonaka Myopathy |
|
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... |
OMIM:605820 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Progressive spasticity, Distal amyotrophy, Lower limb muscle weakness,... |
ORPHA:2822 |
Charcot-Marie-Tooth Disease Type 1E |
|
Joint contracture of the hand, Difficulty walking, Impaired vibration sensation in the lower limb... |
ORPHA:90658 |
Cerebellar Ataxia, Cayman Type |
|
Ataxia, Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Bradykinesia, Gait ataxia,... |
OMIM:601238 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Abnormal lower-limb motor evoked potentials, Lower limb muscle weakness, Progressive spastic para... |
ORPHA:100999 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Central nervous system degeneration, Skeletal muscle atrophy |
ORPHA:868 |
Spastic Paraplegia 64, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Gait disturbance, Skeletal muscle atrophy |
OMIM:615683 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakness, Lower limb ... |
OMIM:270800 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Hyperesthesia, Impaired vibratory sensation, Tip-toe gait, Distal lower limb amyotrophy, Rigidity... |
ORPHA:100984 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Cerebral cortical atrophy, Spastic paraplegia, Cerebellar atrophy, Generalized dys... |
ORPHA:171629 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... |
OMIM:620402 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Optic atrophy, Spastic paraparesis, Upper limb hypertonia, Myoclon... |
ORPHA:254343 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Frontotemporal cerebral atrophy, Lower limb muscle weakness, Difficulty walking, Abnormality of p... |
ORPHA:101001 |
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Spastic paraplegia, Skelet... |
OMIM:620538 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Difficulty walking, Muscle fiber atrophy, Axial dystonia, Opisthot... |
ORPHA:300605 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb... |
ORPHA:254930 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb muscle weakness, Progressive spastic paraplegia, Impaired vibration sensation in the l... |
ORPHA:171863 |
Amyotrophic Lateral Sclerosis 28 |
|
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... |
OMIM:620452 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Parietal cortica... |
ORPHA:98 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Acroparesthesia, Upper limb muscle we... |
ORPHA:206443 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11 |
|
Impaired vibratory sensation, Broad-based gait, Upper limb muscle weakness, Difficulty walking, D... |
OMIM:620528 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Decreased amplitude of sensory action potentials, Dysesthesia, Positive Romberg sign, Gait ataxia... |
OMIM:608984 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Gait disturbance, Choreoathetosis, Ataxia |
ORPHA:67047 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia,... |
OMIM:611302 |
Welander Distal Myopathy |
|
Rimmed vacuoles, Distal amyotrophy, Steppage gait |
OMIM:604454 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Spastic paraplegia, Broad-based gait, Spastic paraparesis, Tip-toe gait, Lower limb muscle weakne... |
OMIM:613647 |
Hereditary Myopathy With Early Respiratory Failure |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... |
ORPHA:178464 |
Amyotrophy, Hereditary Neuralgic |
|
Brachial plexus neuropathy, Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degen... |
OMIM:162100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:254110 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Head tremor, Torticollis... |
OMIM:613724 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Gait disturbance,... |
OMIM:603472 |
Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Abnormality of the thenar eminence, Abnormal te... |
ORPHA:85446 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... |
OMIM:169500 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Distal amyotrophy, Motor axonal neuropathy, Weakness of facial muscula... |
OMIM:617519 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the lowe... |
OMIM:159550 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Cerebral atrophy, Difficulty wal... |
OMIM:611890 |
Primary Lateral Sclerosis |
|
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... |
ORPHA:35689 |
Friedreich Ataxia |
|
Optic atrophy, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Falls, Inabi... |
ORPHA:95 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Spasticity, Spastic paraparesis, Peripheral demyelination, Distal sensory impairment, Peripheral ... |
OMIM:609136 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness, Di... |
OMIM:137200 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Distal amyotrophy, Global brain atrophy, Cerebellar vermis atrophy, I... |
ORPHA:94124 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebral cortical atrophy, Broad-based gait, Skeletal muscle atrophy, Cerebellar atrophy, Lower l... |
OMIM:616479 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Cerebellar atrophy, Difficulty walking... |
ORPHA:330050 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Lower limb muscle weakness, Upper limb muscle weakness, Inability to... |
ORPHA:90117 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased compound muscle action potential ampl... |
OMIM:619279 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Impaired... |
OMIM:164400 |
Adrenomyeloneuropathy |
|
Male sexual dysfunction, Female sexual dysfunction, Leg muscle stiffness, Distal sensory impairme... |
ORPHA:139399 |
Congenital Myopathy 23 |
|
Nemaline bodies, Skeletal muscle atrophy, Difficulty walking, Limb muscle weakness, Facial dipleg... |
OMIM:609285 |
Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Failure... |
ORPHA:2254 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity |
ORPHA:640 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Inability to wal... |
OMIM:609541 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Frontotemporal cerebral atrophy, Progressive spastic paraplegia, Impaired vibration sensation in ... |
ORPHA:171617 |
Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia |
OMIM:613402 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Distal amyotrophy, Demyelinating sensory neuropathy, Impaired vibration sensation in the lower li... |
ORPHA:639 |
Congenital Disorder Of Glycosylation, Type Iibb |
|
Spasticity, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Tetraparesis, Antalgi... |
OMIM:620546 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... |
OMIM:618655 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Loss of ambulation, Peripher... |
ORPHA:137898 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Tetraparesis, Paraparesis, Ataxia, Choreoathetosis |
ORPHA:27 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Bab... |
OMIM:617882 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Knee flexi... |
ORPHA:496689 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Cerebral cortical atrophy, Spastic paraplegia, Upper limb muscle we... |
OMIM:609195 |
Adrenoleukodystrophy |
|
Spastic paraplegia, Lower limb muscle weakness, Neurodegeneration, Incoordination, Limb ataxia, P... |
OMIM:300100 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Spasticity, Distal amyotrophy, Spastic paraplegia, Upper limb muscl... |
ORPHA:100996 |
Amyotrophic Lateral Sclerosis 8 |
|
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Postur... |
OMIM:608627 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Spasticity, Skeletal muscle atrophy, Bradykinesia, Upper motor neuron dysfunction,... |
OMIM:500001 |
Cerebrotendinous Xanthomatosis |
|
Tendon xanthomatosis, Spasticity, Spastic paraparesis, Resting tremor, Abnormal motor evoked pote... |
ORPHA:909 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... |
ORPHA:221091 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... |
OMIM:607080 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Skeletal muscle atrophy, Impaired pain sensation, Cerebellar vermis atrophy, Paresthe... |
OMIM:616719 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Spastic tetraparesis, Neurodegeneration, D... |
OMIM:612319 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Impaired pain sensation, Facial myokymia, Decreased number of peripheral myel... |
OMIM:608703 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Gait disturbance, Camptodactyly of finger, Decreased nerve condu... |
ORPHA:2928 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy, Tetrapar... |
OMIM:617892 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Acroparesthesia, Failure to thrive, Cerebral atrophy, Cerebellar atrophy... |
ORPHA:309162 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... |
OMIM:620389 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Generalized dystonia, Neurodege... |
OMIM:614298 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Optic atrophy, Spasticity, Somatic sensory dysfunction, Generalized limb muscle atrophy, Cerebell... |
ORPHA:466794 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Spastic paraplegia, Cerebellar atrophy, Generalized limb muscle atrophy, Gait ataxia, Motor axona... |
ORPHA:139480 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... |
ORPHA:320375 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Spasticity, Skeletal muscle atrophy, Somatic sensory dysfunction, Fasciculations, Ankle clonus, A... |
OMIM:620323 |
Muscular Atrophy, Malignant Neurogenic |
|
Respiratory paralysis, Skeletal muscle atrophy |
OMIM:158650 |
Spastic Ataxia 9, Autosomal Recessive |
|
Spasticity, Distal amyotrophy, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign... |
OMIM:618438 |
Spinocerebellar Ataxia Type 18 |
|
Skeletal muscle atrophy, Somatic sensory dysfunction, Cerebellar atrophy, Head tremor, Gait ataxi... |
ORPHA:98771 |
Hsd10 Disease |
|
Optic atrophy, Frontotemporal cerebral atrophy, Spastic paraparesis, Myoclonus, Tremor, Rigidity,... |
ORPHA:391417 |
Boucher-Neuhauser Syndrome |
|
Spasticity, Distal amyotrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait a... |
OMIM:215470 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Skeletal muscle atrophy, Fasciculations |
ORPHA:85162 |
Leukodystrophy, Hypomyelinating, 3 |
|
Global brain atrophy, Spastic paraparesis, Failure to thrive, Leukodystrophy, Sudanophilic leukod... |
OMIM:260600 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Spasticity, Cerebral atrophy, Progressive spastic paraplegia, Difficulty walking, Obesity, Delaye... |
ORPHA:464282 |
Pontocerebellar Hypoplasia, Type 1C |
|
Cerebral cortical atrophy, Tongue fasciculations, Skeletal muscle atrophy, Failure to thrive, Spi... |
OMIM:616081 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Spastic paraplegia, Distal amyotrophy, Sensory axonal neuropathy, Motor axonal neuropathy, Decrea... |
OMIM:256850 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Decreased compound muscle a... |
OMIM:603511 |
Tangier Disease |
|
Distal amyotrophy, Impaired pain sensation, Impaired temperature sensation, Peripheral demyelinat... |
OMIM:205400 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed... |
OMIM:616811 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:611637 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Cerebral cortical atrophy, Spasticity, Spastic paraplegia, Skeletal muscle atrophy, Pseudobulbar ... |
OMIM:616586 |
Pontocerebellar Hypoplasia, Type 1A |
|
Cerebral cortical atrophy, Tongue fasciculations, Distal amyotrophy, Congenital contracture, Hand... |
OMIM:607596 |
Lethal Congenital Contracture Syndrome 4 |
|
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture |
OMIM:614915 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Distal amyotrophy, Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle w... |
OMIM:612020 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Pseudobulbar paralysis, Babinski sign, Lower ... |
ORPHA:101006 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Positive Romberg sig... |
OMIM:601152 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... |
OMIM:615290 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... |
OMIM:256840 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
X-Linked Adrenoleukodystrophy |
|
Leg muscle stiffness, Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordinatio... |
ORPHA:43 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Vocal cord paresis, Difficulty walking, Head tremor, Positive Romberg sign... |
ORPHA:99949 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Cerebral cortical atrophy, Spasticity, Spastic paraparesis, Failure... |
OMIM:238970 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Decreased nerve condu... |
ORPHA:397744 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Spastic paraparesis, Shuffling gait, Hand tremor, Bradykinesia, Motor ... |
ORPHA:289560 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Pseudobulbar ... |
OMIM:105400 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Spastic paraparesis, Difficulty walking, Interosseus muscle atrophy... |
OMIM:500013 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Decreased nerve conductio... |
OMIM:256600 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysdiadochokinesis, Cerebellar atrophy, Decreased nerve conduction velocity, Dysmetria, Ataxia, I... |
OMIM:618356 |
Optic Atrophy 11 |
|
Optic atrophy, Increased variability in muscle fiber diameter, EEG with focal sharp waves, Facial... |
OMIM:617302 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spastic paraplegia, Progressive spastic paraparesis, Upper motor neuron dysfunction, ... |
ORPHA:506353 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Cerebral atrophy, Decreased nerve conduction velocity, Intrauterine growth retardat... |
ORPHA:565624 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Positive Romberg sign, Park... |
OMIM:258450 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination, Ataxia |
OMIM:200100 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Impaired vibratory sensation, Spasti... |
OMIM:615491 |
Oxoglutarate Dehydrogenase Deficiency |
|
Falls, Gait ataxia, Dysmetria, Rigidity, Unsteady gait, Dystonia, Generalized amyotrophy |
OMIM:203740 |
Machado-Joseph Disease Type 3 |
|
Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Distal low... |
ORPHA:276244 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Skeletal muscle atrophy, Streak ovary, Abnormality of peripheral nerve conduct... |
ORPHA:168563 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Arm dystonia, Spasticity, Skeletal muscle atrophy, Sensory axonal n... |
ORPHA:88644 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Peripheral demyelination, Left ventricular hypertrophy, Small for gestationa... |
OMIM:616733 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Abnormal nerve conduct... |
ORPHA:2926 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Tetraparesis, Impaired vibration sensation in the lower limbs, Hand muscle atrophy, Motor axonal ... |
ORPHA:324442 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... |
ORPHA:401815 |
Coasy Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Difficulty walking, Peripheral axonal neuropathy, Parkinsonism, Oromandibula... |
ORPHA:397725 |
Scapuloperoneal Myopathy, X-Linked Dominant |
|
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... |
OMIM:300695 |
Nemaline Myopathy 2 |
|
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Muscle fiber... |
OMIM:256030 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, R... |
ORPHA:329284 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... |
ORPHA:478029 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity, Tremor, Gait disturbance, EEG abnor... |
ORPHA:812 |
Allan-Herndon-Dudley Syndrome |
|
Spasticity, Small for gestational age, Skeletal muscle atrophy, Decreased body mass index, Spasti... |
ORPHA:59 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Distal amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Chorea, Limb at... |
OMIM:606002 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Allan-Herndon-Dudley Syndrome |
|
Spastic paraplegia, Leukodystrophy, Inability to walk, Babinski sign, Delayed CNS myelination, Cl... |
OMIM:300523 |
Myopathy, Myofibrillar, 6 |
|
Muscular dystrophy, Tip-toe gait, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion... |
OMIM:612954 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Distal amyotrophy, Cerebellar atrophy, Spastic paraparesis, Lower limb muscle... |
OMIM:275900 |
Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Abnormal cranial nerve morphology, Limb muscl... |
ORPHA:97229 |
Congenital Myopathy 10A, Severe Variant |
|
Increased variability in muscle fiber diameter, Camptodactyly of finger, Abnormal motor nerve con... |
OMIM:614399 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Falls, Generalized li... |
OMIM:608358 |
Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures |
OMIM:611369 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis, Fasciculations, Abnormal lower moto... |
OMIM:602099 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Abnormality of visual evoked potent... |
ORPHA:1933 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Paresthesia, Distal sensory impairment, Peripheral axonal... |
OMIM:263570 |
Prune1-Related Neurological Syndrome |
|
Optic atrophy, Tongue fasciculations, Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, ... |
ORPHA:544469 |
De Sanctis-Cacchione Syndrome |
|
Optic atrophy, Spasticity, Global brain atrophy, Leukodystrophy, Cerebral atrophy, Axonal degener... |
OMIM:278800 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Neurodegeneration, Akine... |
OMIM:300894 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Distal amyotrophy, Decreased amplitude of sensory action potentials, Inabilit... |
ORPHA:36386 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Generalized amyotrophy, Sensory ... |
ORPHA:52430 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Decreased compound muscle action potential amplitude, Multiple joint contractures, Myopathy, Spin... |
OMIM:301830 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Spastic paraplegia, Resting tremor, Abnormal upper motor neuron mor... |
OMIM:601162 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb muscle weakness, Progressive spastic paraplegia, Difficulty walking, Impaired vibratio... |
ORPHA:100993 |
Inclusion Body Myositis |
|
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... |
ORPHA:611 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Rigidity, Gait disturbance, Ataxia, Dystonia |
OMIM:618239 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Muscular dystrophy, Cerebellar atrophy, Tip-toe gait, Difficulty walking, Reduced muscle fiber al... |
ORPHA:370980 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Loss of ambulat... |
OMIM:604286 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Limb-girdle muscular dystrophy, Difficulty walking, Inability to walk, Reduced muscle fiber alpha... |
ORPHA:206559 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinati... |
ORPHA:2821 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Cerebellar atrophy, ... |
OMIM:606612 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Dysmetria, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait... |
ORPHA:96 |
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Optic atrophy, Cerebral cortical atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Inability ... |
OMIM:617481 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Distal amyotrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Dysmetria, Distal s... |
OMIM:616505 |
Bethlem Myopathy 1A |
|
Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra... |
OMIM:158810 |
Poliomyelitis |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... |
ORPHA:2912 |
Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased nerve cond... |
OMIM:618733 |
Glutaric Acidemia I |
|
Failure to thrive, Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Dyst... |
OMIM:231670 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Paresthesia, Ragged-red muscle ... |
ORPHA:298 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Axonal loss, Dystonia, Athetosis |
OMIM:300857 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Lower limb muscle weakness, Difficulty walking, Inability to walk, Tremor, Abnormal lower motor n... |
ORPHA:2590 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Cerebral cortical atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations... |
OMIM:616437 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Tip-toe gait, Leukodystrophy, Decreased nerve conduction velocity, Gait ataxia, Pr... |
ORPHA:309256 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Distal amyotrophy, Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Unsteady gait, Lower limb ... |
OMIM:604391 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Progressive spastic paraplegia, Hand muscle weakness, Degeneration of the lateral corticospinal t... |
ORPHA:320355 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Optic atrophy, ... |
ORPHA:99956 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Skeletal muscle atrophy, Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, ... |
OMIM:617710 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebral atrophy, Facial diplegia, Knee flexion cont... |
OMIM:616286 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Diffuse cerebra... |
ORPHA:363654 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Upper limb muscle weakness... |
ORPHA:139417 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Involuntary movements, Tongue fasciculations, Ske... |
ORPHA:238329 |
Cednik Syndrome |
|
Hypogonadism, Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Broad-based gait, Distal amyotrophy, Decreased nerve conduction velocity, Foot dorsiflexor weakne... |
ORPHA:477817 |
Myopathy, Distal, 4 |
|
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... |
OMIM:614065 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Amyotonia Congenita |
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Skeletal muscle atrophy |
OMIM:205000 |
Amyotrophic Lateral Sclerosis 9 |
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Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Myositis, Clumsiness, Proxima... |
OMIM:253600 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
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Myoclonus, Skeletal muscle atrophy, Failure to thrive, Dysmetria |
OMIM:618251 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
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Tongue fasciculations, Tip-toe gait, Lower limb muscle weakness, Angulated muscle fibers, Quadric... |
OMIM:620285 |
Developmental And Epileptic Encephalopathy 82 |
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Spastic paraparesis, Cerebral atrophy, Inability to walk, Decreased body weight, Spastic tetraplegia |
OMIM:618721 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
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Optic atrophy, Skeletal muscle atrophy, Failure to thrive, Left ventricular hypertrophy, Abnormal... |
OMIM:618228 |
Leukodystrophy, Hypomyelinating, 24 |
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Decreased motor nerve conduction velocity, Cerebral atrophy, Leukodystrophy, Peripheral axonal ne... |
OMIM:619851 |
Peroxisome Biogenesis Disorder 6B |
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Impaired vibratory sensation, Distal amyotrophy, Cerebellar atrophy, Leukodystrophy, Limb ataxia,... |
OMIM:614871 |
Spinocerebellar Ataxia 10 |
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Cerebellar atrophy, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Dysmetria, Dis... |
OMIM:603516 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
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Progressive cerebellar ataxia, Somatic sensory dysfunction, Lower limb muscle weakness, Lower lim... |
ORPHA:1177 |
Autosomal Recessive Spastic Paraplegia Type 75 |
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Impaired vibratory sensation, Spastic paraplegia, Spasticity, Distal lower limb amyotrophy, Dysme... |
ORPHA:459056 |
Epilepsy, Progressive Myoclonic, 9 |
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Myoclonus, Gait ataxia, Action myoclonus, Frequent falls, Generalized amyotrophy |
OMIM:616540 |
Spinocerebellar Ataxia Type 3 |
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Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... |
ORPHA:98757 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... |
OMIM:617760 |
Yuan-Harel-Lupski Syndrome |
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Broad-based gait, Decreased nerve conduction velocity, Gait ataxia, Distal sensory impairment, Sy... |
OMIM:616652 |
Oculopharyngodistal Myopathy 3 |
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Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... |
OMIM:619473 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... |
OMIM:619566 |
Isolated Succinate-Coq Reductase Deficiency |
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Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis, Knee flexion contrac... |
ORPHA:3208 |
Bilateral Perisylvian Polymicrogyria |
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EEG with frontal focal spikes, Spasticity, Oromotor apraxia, Pseudobulbar paralysis, Facial diple... |
ORPHA:98889 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Failure to thrive, Difficulty walking, Inability to walk, Abnormal morphology of musculature of p... |
ORPHA:280210 |
Multiple Sulfatase Deficiency |
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Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, CNS demyelination, At... |
OMIM:272200 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
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Increased variability in muscle fiber diameter, Decreased motor nerve conduction velocity, Axial ... |
OMIM:619026 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... |
OMIM:201300 |
Autosomal Recessive Spastic Paraplegia Type 5A |
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Impaired vibratory sensation, Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakne... |
ORPHA:100986 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
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Unsteady gait, Skeletal muscle atrophy, Distal sensory impairment, Sensory axonal neuropathy |
OMIM:300614 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrauterine g... |
OMIM:615419 |
Myasthenic Syndrome, Congenital, 12 |
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Waddling gait, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy |
OMIM:610542 |
Myosclerosis, Autosomal Recessive |
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Achilles tendon contracture, Facial palsy, Skeletal muscle atrophy, Neck joint contracture |
OMIM:255600 |
Ataxia-Oculomotor Apraxia Type 4 |
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Progressive distal muscular atrophy, Muscular dystrophy, Somatic sensory dysfunction, Obesity, Di... |
ORPHA:459033 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
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Shuffling gait, Upper limb muscle weakness, Lower limb muscle weakness, Fasciculations, Tremor, L... |
ORPHA:209335 |
Developmental And Epileptic Encephalopathy 51 |
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Cerebral cortical atrophy, Skeletal muscle atrophy, Failure to thrive, Cerebellar atrophy, Inabil... |
OMIM:617339 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
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Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... |
ORPHA:254361 |
Arachnoid Cyst |
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Lower limb muscle weakness, Cranial nerve compression, Tetraparesis, Inability to walk, Paresthes... |
ORPHA:2356 |
Distal Myotilinopathy |
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Distal amyotrophy, Difficulty walking, Multiple joint contractures, Abnormal muscle fiber myotili... |
ORPHA:98911 |
Alexander Disease Type Ii |
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Spasticity, Spastic paraparesis, Limb muscle weakness, Cervical spinal cord atrophy, Rigidity, Ba... |
ORPHA:363722 |
Infantile Neuroaxonal Dystrophy |
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Ataxia, Optic atrophy, Cerebellar atrophy, Abnormality of peripheral nerve conduction, Peripheral... |
ORPHA:35069 |
Spinocerebellar Ataxia 2 |
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Impaired vibratory sensation, Spasticity, Distal amyotrophy, Cerebellar atrophy, Fasciculations, ... |
OMIM:183090 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
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Failure to thrive, Generalized dystonia, Spastic tetraparesis, Cerebral palsy, Spastic ataxia, Pa... |
OMIM:620358 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
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Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibration sensation ... |
OMIM:613640 |
Metachromatic Leukodystrophy, Juvenile Form |
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Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Progressive gait ataxia, Dyst... |
ORPHA:309263 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
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Impaired vibratory sensation, Cerebellar atrophy, Impaired pain sensation, Cerebellar vermis atro... |
OMIM:614575 |
Combined Oxidative Phosphorylation Deficiency 6 |
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Tongue fasciculations, Involuntary movements, Skeletal muscle atrophy, Ragged-red muscle fibers, ... |
OMIM:300816 |
Spinocerebellar Ataxia Type 36 |
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Tongue fasciculations, Skeletal muscle atrophy, Limb myoclonus, Hand tremor, Fasciculations, Diff... |
ORPHA:276198 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
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Cerebral cortical atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Per... |
OMIM:617070 |
Myopathy, Distal, 3 |
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Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Clumsiness... |
OMIM:610099 |
Ataxia-Oculomotor Apraxia 3 |
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Distal amyotrophy, Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal ne... |
OMIM:615217 |
Miyoshi Muscular Dystrophy 1 |
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Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Tip-toe g... |
OMIM:254130 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... |
OMIM:253601 |
Machado-Joseph Disease Type 1 |
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Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Distal low... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Degeneration of the striatum, Spasticity, Skeletal muscle atrophy, Cerebellar atrophy, Distal low... |
ORPHA:276241 |
Spastic Paraplegia 16, X-Linked |
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Spastic paraplegia, Shuffling gait, Lower limb muscle weakness, Babinski sign, Lower limb spastic... |
OMIM:300266 |
Harel-Yoon Syndrome |
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Optic atrophy, Spasticity, Distal amyotrophy, Cerebellar atrophy, Inability to walk, Peripheral a... |
OMIM:617183 |
Spastic Paraplegia 15, Autosomal Recessive |
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Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Paraplegia, Peripheral axonal ... |
OMIM:270700 |
Fried Syndrome |
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Gait disturbance, Skeletal muscle atrophy, Spastic diplegia |
ORPHA:85335 |
Neuropathy, Hereditary Sensory, Type Ie |
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Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy, Ataxia |
OMIM:614116 |
Neuropathy, Congenital Hypomyelinating, 3 |
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CNS hypomyelination, Decreased motor nerve conduction velocity, Arthrogryposis multiplex congenit... |
OMIM:618186 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
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Distal amyotrophy, Cerebellar atrophy, Cerebral atrophy, Limb hypertonia, EEG abnormality, Dyston... |
OMIM:618247 |
Friedreich Ataxia |
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Impaired vibratory sensation, Optic atrophy, Decreased amplitude of sensory action potentials, Li... |
OMIM:229300 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Babinski sign, Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612069 |
Pontocerebellar Hypoplasia, Type 11 |
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