| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordi... |
OMIM:213200 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... |
OMIM:611637 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Dystonia |
OMIM:618093 |
| Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Gliosis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to... |
ORPHA:275872 |
| Huntington Disease-Like 2 |
|
Parkinsonism, Chorea, Gait disturbance, Involuntary movements, Weight loss, Dystonia |
ORPHA:98934 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait distur... |
OMIM:604484 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Poor fine motor coordination, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, D... |
ORPHA:320370 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal dyskinesia, Parkinsonism, Tet... |
OMIM:105550 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Gliosis, Frequent falls, Gait ataxia, Spasticity |
OMIM:618369 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
| Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia |
OMIM:300857 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclo... |
OMIM:607136 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation |
ORPHA:2815 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... |
OMIM:302800 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Abnormal motor neuron morphology, Impaired pain sensation, Impaired... |
DECIPHER:29 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Hypertonia, Ataxia, Axial dystonia, Inability to walk, Amyotrophic latera... |
ORPHA:300605 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Huntington Disease |
|
Gliosis, Bradykinesia, Rigidity, Chorea, Gait ataxia |
OMIM:143100 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Dystonia, Babinski sign... |
ORPHA:251282 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Gliosis, Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Somatic sensory dysfunction, Shu... |
OMIM:221820 |
| Mast Syndrome |
|
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia |
OMIM:248900 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Primary Lateral Sclerosis, Juvenile |
|
Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Spasticity of pharyngeal muscles... |
OMIM:606353 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Steppage gait |
OMIM:302802 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Spasticity of facial muscles, Difficulty wa... |
OMIM:205100 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... |
OMIM:607483 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Gliosis, Simultanapraxia, Chor... |
ORPHA:157941 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Babinski sign, Weakness due to upper motor neuron dysfunction, Spas... |
ORPHA:35689 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Weight loss, Gait ataxia, Cachexia |
OMIM:612075 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Myoclonus, Rigidity, Chore... |
ORPHA:248111 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ataxia, Weight loss |
OMIM:613662 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis, Myelopathy |
OMIM:159580 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Distal sensory impairment, Tetraparesis, Spastic paraplegia, Gait disturbance, Abnormal upper mot... |
OMIM:263570 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Ataxia, Hemiparesis |
OMIM:141500 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Failure to thrive, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Ba... |
ORPHA:225154 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis, Spasticity, Tetraplegia, Clonus |
OMIM:614959 |
| Machado-Joseph Disease |
|
Ataxia, Gliosis, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Impaired vibratory sen... |
OMIM:109150 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Apraxia, Dystonia |
OMIM:615889 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity |
OMIM:617854 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Tremor, Ataxia, Myoclonus |
ORPHA:97229 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity, Small for gestational age |
OMIM:278780 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Myoclonus, Abnormal pyramidal sign, Babinski sign, Astrocytosis, Spasticity, Upp... |
ORPHA:204 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gliosis, Small for gestational age, Increased body mass index, Hyperkinetic movements, Truncal ob... |
OMIM:300957 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Christianson Syndrome |
|
Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia |
ORPHA:85278 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Spastic paraparesis |
OMIM:182610 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Ataxia, Gliosis, Inability to walk, Titubation, Difficulty walking, Lower limb... |
ORPHA:280210 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuron morphology, Spas... |
OMIM:221770 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Cachexia, Gait disturbance, Choreoathetosis, Spasticity, Dystonia, Failure to thrive in i... |
ORPHA:702 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Intention tremor, Gait ataxia, Abnormal upper motor neuron morphology, Spasticity |
OMIM:215470 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... |
ORPHA:101077 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Intention tremor, Abnormal motor neuron morphology, Head tremor |
OMIM:613724 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Tremor, Unsteady gait, Obesity |
OMIM:614947 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance |
OMIM:210000 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Gliosis, Hyperkinetic movements, Gait disturbance, Tremor, Upper limb spasticit... |
ORPHA:457240 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban... |
OMIM:615643 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Ankle clonus, Babinski sign, Tetraparesis, Abnormal lower motor ne... |
OMIM:613954 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia |
OMIM:607458 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Cerebral palsy, Babinski sign, Spastic paraplegia, Spastic tetraplegia |
OMIM:612936 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
| Rett Syndrome |
|
Gait apraxia, Cachexia, Stereotypical hand wringing, Truncal ataxia, Gait ataxia, Spasticity, Dys... |
OMIM:312750 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... |
ORPHA:444099 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Myoclonus, Gliosis, Spasticity |
OMIM:225753 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Rigidity, Parkinsonism, Tremor, Chor... |
OMIM:261640 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Abnormal pyramidal sign, Babi... |
OMIM:617225 |
| X-Linked Creatine Transporter Deficiency |
|
Hypertonia, Ataxia, Cachexia, Chorea, Athetosis, Dystonia |
ORPHA:52503 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Inability to walk, Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology... |
OMIM:611890 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
| Huntington Disease |
|
Gait imbalance, Clumsiness, Bradykinesia, Poor fine motor coordination, Inability to walk, Myoclo... |
ORPHA:399 |
| Isaacs Syndrome |
|
Fasciculations, Weight loss, Distal sensory impairment |
ORPHA:84142 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
| Leigh Syndrome |
|
Failure to thrive, Ataxia, Gliosis, Spasticity, Dystonia |
OMIM:256000 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Steppage gait |
OMIM:618387 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Choreoathetosis, Tetraparesis |
ORPHA:27 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Hemimegalencephaly |
|
Abnormal neuron morphology, Myoclonus, Gliosis, Hemiparesis |
ORPHA:99802 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking |
ORPHA:477673 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity |
OMIM:616494 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... |
ORPHA:254343 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Ataxia, Gliosis, Failure to thrive |
OMIM:220111 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
| Parkinson Disease 1, Autosomal Dominant |
|
Gliosis, Bradykinesia, Resting tremor, Myoclonus, Rigidity, Parkinsonism, Gait disturbance, Shuff... |
OMIM:168601 |
| Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
| X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... |
ORPHA:43 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Myoclonus, Gliosis, Abnormality of extrapyramidal motor function, Distal sensory impairment |
OMIM:604218 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Abnormal lower motor neuron morphology, Difficulty walking, Waddling gait |
OMIM:611067 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Babinski sign, Pallor of dors... |
OMIM:602433 |
| Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... |
ORPHA:276244 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Hypertonia, Gliosis, Spasticity, Small for gestational age |
OMIM:615095 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Failure to thrive, Dystonia |
OMIM:619651 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Hemiparesis |
OMIM:613002 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuro... |
OMIM:602099 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Huntington Disease-Like 1 |
|
Dysmetria, Basal ganglia gliosis, Rigidity, Chorea, Unsteady gait, Incoordination |
OMIM:603218 |
| Hereditary Late-Onset Parkinson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Gliosis, Bradykinesia, Akinesia,... |
ORPHA:411602 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gait disturbance, Gliosis, Spasticity, Unsteady gait |
OMIM:603896 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypertonia, Gliosis, Babinski sign, Rigidity, Myoclonic spasms, Clonus |
OMIM:614498 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Flynn-Aird Syndrome |
|
Cachexia, Ataxia, Impaired pain sensation |
ORPHA:2047 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis |
ORPHA:391417 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hypertonia, Inability to walk, Cachexia, Spasticity, Failure to thrive in infancy |
OMIM:616801 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia |
ORPHA:496756 |
| Adrenoleukodystrophy |
|
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Spastic paraple... |
OMIM:300100 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Hypertonia, Gliosis, Opisthotonus, Small for gestational age, Cerebral palsy, Babinski sign, Myoc... |
OMIM:619847 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia |
ORPHA:1933 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Progressive Supranuclear Palsy |
|
Gliosis, Blepharospasm, Bradykinesia, Rigidity, Falls, Tremor, Unsteady gait, Dystonia |
ORPHA:683 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Arnold-Chiari Malformation Type Ii |
|
Paraparesis, Myelomeningocele, Ataxia, Opisthotonus, Paraplegia, Somatic sensory dysfunction, Dif... |
ORPHA:1136 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Upper limb spasticity, Spastic paraparesis, Dysmetria, Ankle clonus, Knee clonus, Babinski sign, ... |
OMIM:275900 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait |
OMIM:182920 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Babinski sign, Abnorma... |
ORPHA:397946 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Inability to walk, Parkinsonism, Progressive spasticity, Gait disturbance, A... |
ORPHA:2822 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Gliosis, Dysmetria, Intention tremor, Unilateral vocal cord paralysis, Head titubation, Spasticit... |
OMIM:301790 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Degeneration of anterior horn cells, Fasciculations, Frequent falls, Tremor, Difficult... |
OMIM:159950 |
| X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... |
ORPHA:93952 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Dystonia, Babinski sign, Spasticity |
OMIM:618186 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Tremor, Spasticity, Abnormality ... |
OMIM:164500 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Abnormal upper... |
OMIM:601162 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Hypertonia, Loss of ambulation, Clumsiness, ... |
ORPHA:137898 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Spastic paraparesis, Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, ... |
OMIM:615157 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Babinski sign, Spastic paraplegia, Abnormal lower motor neuron morphology, Spastic tetraplegia, T... |
OMIM:607225 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells |
ORPHA:65684 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Acroparesthesia, Spastic parapare... |
ORPHA:206443 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... |
OMIM:614487 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Ataxia, Spastic paraparesis, Dysmetria, Spasticity |
OMIM:614877 |
| Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... |
ORPHA:3095 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramid... |
OMIM:614298 |
| Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Abnormality of the spinal cord, Spinal arteriovenous malformation |
ORPHA:53721 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
| Progressive Non-Fluent Aphasia |
|
Parkinsonism, Astrocytosis, Abnormal lower motor neuron morphology, Apraxia, Abnormality of extra... |
ORPHA:100070 |
| Pick Disease Of Brain |
|
Motor stereotypy, Gliosis |
OMIM:172700 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Spinocerebellar Ataxia 42 |
|
Ataxia, Impaired vibration sensation at ankles, Babinski sign, Abnormal pyramidal sign, Tremor, U... |
OMIM:616795 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Gliosis, Inability to walk, Cerebellar gliosis, Small for gestational age, Basal ganglia ... |
ORPHA:79243 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
| Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:98293 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Gait disturbance, Spasticity, Weig... |
ORPHA:216866 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Broad-based gait, Motor stereotypy |
OMIM:619470 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Dystonia |
OMIM:617557 |
| Perry Syndrome |
|
Tremor, Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Intention tremor, Abnormal pyrami... |
OMIM:312080 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Rigidity, Tremor, Dystonia |
OMIM:617836 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... |
ORPHA:90117 |
| Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Waddling gait, Fasciculations, U... |
ORPHA:52430 |
| Developmental And Epileptic Encephalopathy 82 |
|
Decreased body weight, Inability to walk, Spastic tetraplegia, Spastic paraparesis |
OMIM:618721 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... |
ORPHA:506353 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Arachnoid Cyst |
|
Paraparesis, Inability to walk, Abnormal spinal meningeal morphology, Hemiparesis, Distal sensory... |
ORPHA:2356 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... |
ORPHA:289560 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... |
OMIM:300894 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Rigidity, Tremor, Spasticity |
ORPHA:33445 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait a... |
OMIM:614831 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Gliosis, Pseudobulbar paralysis, Babinski sign, Spasticity |
OMIM:169500 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... |
ORPHA:240085 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Rigidity, Tremor, Choreoathetosis, Spasticity, Dystonia |
OMIM:612438 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Dysmetria, Impai... |
OMIM:183090 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Gliosis, Abnormal pyramidal sign, Spastic tetraplegia, Unsteady gait |
OMIM:256600 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Tay-Sachs Disease |
|
Clumsiness, Gliosis, Poor fine motor coordination, Exaggerated startle response, Dysmetria, Laryn... |
ORPHA:845 |
| Perry Syndrome |
|
Akinesia, Bradykinesia, Rigidity, Parkinsonism, Tremor, Weight loss, Dystonia, Short stepped shuf... |
OMIM:168605 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Dystonia |
ORPHA:139485 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Spastic paraparesis, Intention tremor, Babinski sign, Rigidity, Head titubation, Progress... |
OMIM:608804 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Spasticity |
OMIM:300983 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia |
ORPHA:42 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... |
ORPHA:313772 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Tremor, Gait ataxia, Spasticity, Apraxia |
OMIM:617810 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Fasciculations, Tongue fasciculations |
OMIM:613435 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Oculopharyngodistal Myopathy |
|
Loss of ambulation, Paraplegia, Difficulty walking, Vocal cord paresis, Weight loss |
ORPHA:98897 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Familial Acute Necrotizing Encephalopathy |
|
Hypertonia, Gliosis, Rigidity, Gait disturbance, Spasticity, Spastic tetraplegia |
ORPHA:88619 |
| Infantile Krabbe Disease |
|
Failure to thrive, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic diplegia, Myoclonus,... |
ORPHA:206436 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis, Spasticity |
ORPHA:168486 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonus, Gliosis |
OMIM:614946 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Rigidity, Gait disturbance, Tremor, Somatic sensory dysfunction |
OMIM:603472 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Gliosis, Opisthotonus, Extrapyramidal dyskinesia, Chorea, Dystonia |
OMIM:277470 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, H... |
OMIM:618877 |
| Cerebrotendinous Xanthomatosis |
|
Paraparesis, Ataxia, Gliosis, Spastic paraparesis, Resting tremor, Long-tract signs, Babinski sig... |
ORPHA:909 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Di... |
OMIM:616505 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Bradykinesia, Laryngeal dystonia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Resting tremor, Parkinsonism, Tremor, Shuffling gait, Obesity, Lower limb spast... |
ORPHA:3077 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Failure to thrive, Ataxia, Inability to walk, Hypertonia, Tremor |
OMIM:619556 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Upper motor neuron dysfunction, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity |
OMIM:614307 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Loss of ambulation, Spastic paraparesis, Babinski sign, Frequent falls, Spasticity, Lower... |
ORPHA:3208 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
| Gaucher Disease, Type Iii |
|
Myoclonus, Ataxia, Decreased body weight, Spastic paraparesis |
OMIM:231000 |
| Poliomyelitis |
|
Paraparesis, Inability to walk, Hyperkinetic movements, Myelitis, Paralysis, Paresthesia, Fascicu... |
ORPHA:2912 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
| Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidity, Parkinsonism, Pos... |
OMIM:619911 |
| Oromandibular Dystonia |
|
Torticollis, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Hyperkinetic movements, Limb dy... |
ORPHA:93958 |
| Supranuclear Palsy, Progressive, 1 |
|
Gait imbalance, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Retrocollis, Rigidity, Parkinson... |
OMIM:601104 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Abnormal astrocyte mor... |
ORPHA:83629 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Ataxia, Gliosis, Failure to thrive, Myoclonus, Astrocytosis, Paralysis |
OMIM:203700 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, Hoffmann sign, Babinski sign, ... |
ORPHA:206448 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Pseudobulbar paralysis, Babinski sign, Spastic paraplegia, Tremor, Gait disturbance, Spasticity, ... |
OMIM:616586 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... |
OMIM:208920 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia |
ORPHA:329284 |
| L-2-Hydroxyglutaric Aciduria |
|
Spastic tetraparesis, Abnormal pyramidal sign, Gliosis, Abnormality of extrapyramidal motor function |
OMIM:236792 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
| Hypermanganesemia With Dystonia 1 |
|
Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, ... |
OMIM:613280 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Spastic tetraplegia, Severe failure to thrive, Hyperesthesia |
ORPHA:371364 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia |
ORPHA:306669 |
| Dopa-Responsive Dystonia |
|
Leg dystonia, Inability to walk, Poor coordination, Abnormality of extrapyramidal motor function,... |
ORPHA:255 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Degeneration of anterior horn cells, Gliosis, Parkinsonism, Trophic limb changes |
OMIM:118301 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Tremor, Obesity, Cachexia |
ORPHA:85293 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Spastic paraparesis, Babinski sign, Dysmetria, Spastic dysarthria |
OMIM:616680 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Paresthesia, Cachexia, Weight loss |
ORPHA:298 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:619738 |
| Supranuclear Palsy, Progressive, 2 |
|
Gait imbalance, Akinesia, Gliosis, Bradykinesia, Axial dystonia, Retrocollis, Rigidity, Parkinson... |
OMIM:609454 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ataxia, Bradykin... |
ORPHA:282166 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Tremor, Dysdiadochokinesis, Truncal ataxia, Dysmetria |
OMIM:610185 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait |
OMIM:619405 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Ataxia, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficulty walking, Invo... |
ORPHA:442835 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Bradykinesia, Small for gestational age, Limb hypertonia, Cerebral palsy, Rigidity, Oculogyric cr... |
ORPHA:70594 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation |
OMIM:619092 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Failure to thrive, Abnormal pyramidal sign, Spastic paraparesis |
OMIM:260600 |
| Acute Transverse Myelitis |
|
Paraparesis, Impaired vibratory sensation, Babinski sign, Dissociated sensory loss, Paraplegia, S... |
ORPHA:139417 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Gliosis, Myoclonus, Chorea, Gait ataxia, Spastic tetraplegia, Dystonia, Generalized dystonia |
OMIM:618321 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
| Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis, Loss of ambulation |
OMIM:615515 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Hand tremor, Spastic paraparesis, Clasp-knife sign, Babinski sign, Distal sensory impairment, Gai... |
ORPHA:101076 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Positive Romberg sign, Distal sensory impairment, Frequent falls, Tremor, Somatic sensory dysfunc... |
ORPHA:206594 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Loss of ambulation, Dysmetria, Babinski sign, Tremor, Spasticity, Postural tremor, Dystonia |
OMIM:607694 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Dysmetria, Tremor, Gait ataxia, Spasticity, Poor motor coordination, Oculomotor apraxia |
ORPHA:1170 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Loss of ambulation, Abnormal pyramidal sign, Fasciculations, Postu... |
OMIM:608627 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia |
OMIM:233910 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... |
ORPHA:228360 |
| Foix-Alajouanine Syndrome |
|
Gait imbalance, Hyperintensity of MRI T2 signal of the spinal cord, Dysesthesia, Myelopathy, Myel... |
ORPHA:79093 |
| Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb a... |
ORPHA:101 |
| Whipple Disease |
|
Cachexia, Ataxia, Abnormal pyramidal sign, Myoclonus |
ORPHA:3452 |
| 4H Leukodystrophy |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Dystonia, Upper motor neu... |
ORPHA:289494 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Pseudobulbar paralysis, Degeneration of anterior horn cells, Spast... |
OMIM:105400 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Gliosis, Vestibular areflexia, Spastic tetraplegia, Head titubation |
ORPHA:3240 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Gliosis, Small for gestational age |
OMIM:214150 |
| Mannosidosis, Alpha B, Lysosomal |
|
Gliosis, Limb ataxia, Abnormal pyramidal sign, Babinski sign, Gait ataxia, Spasticity, Spinocereb... |
OMIM:248500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Gliosis, Ankle clonus, Falls, Difficulty walking, Dystonia |
OMIM:618222 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Incoordination |
OMIM:608768 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Long-tract signs, Tetraparesis |
OMIM:602080 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Abnormality of pain... |
ORPHA:544254 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Abnormal pyramidal sign, Incoordination, Spina bifida occulta, Tremor, Oculomotor apraxia... |
OMIM:618060 |
| Parkinson Disease 14, Autosomal Recessive |
|
Loss of ambulation, Clumsiness, Bradykinesia, Axial dystonia, Hand tremor, Resting tremor, Ankle ... |
OMIM:612953 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Gait ataxia, Spasticity, Limb d... |
ORPHA:363400 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Gliosis, Myoclonus, Babinski sign, Truncal ataxia, Truncal obesity, Spasticity, Lower lim... |
OMIM:301072 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Resting tremor, Dysmetria, Intention t... |
OMIM:300623 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Loss of ambulation, Progressive spastic quadriplegia, Progressive extrapyramidal movement disorde... |
ORPHA:329308 |
| Saccharopinuria |
|
Spastic diplegia, Gait ataxia, Distal sensory impairment, Tremor |
ORPHA:3124 |
| Leigh Syndrome |
|
Failure to thrive, Ataxia, Gliosis, Spastic diplegia, Hyperkinetic movements, Chorea, Athetosis, ... |
ORPHA:506 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Polyminimyoclonus, Tremor, Impaired distal vibration sensation, Vocal cord paresis, Impaired pain... |
OMIM:619574 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Tremor, Inability to walk, Spasticity |
OMIM:618718 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Ataxia, Gait disturbance, Tremor, Spasticity |
ORPHA:100 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Gait imbalance, Parkinsonism with favorable response to dopaminergic medication, Progressive extr... |
ORPHA:240071 |
| Multiple System Atrophy |
|
Axial dystonia, Progressive cerebellar ataxia, Bradykinesia, Resting tremor, Abnormal pyramidal s... |
ORPHA:102 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Ataxia, Cataplexy, Gliosis, Inability to walk, Upper limb spasticity, Tongue fasciculations, Lowe... |
OMIM:617193 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Ataxia, Spasticity |
ORPHA:220295 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Sensory ataxia, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, Difficulty walk... |
OMIM:500013 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Myoclonus, Spinal cord compression, Weight loss |
OMIM:256700 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Babinski sign, Tremor, Impaired distal vibration sensation, Spasticity, Hypertonia, Actio... |
ORPHA:99027 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Fasciculations, Spasticity |
OMIM:614808 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Tremor, Difficulty walking, Gait ataxia, Spasticity, Oculomotor apraxia |
ORPHA:529665 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Lissencephaly, X-Linked, 2 |
|
Gliosis, Spasticity |
OMIM:300215 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
| Progressive Multifocal Leukoencephalopathy |
|
Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper motor neuron dysfunction, ... |
ORPHA:217260 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraparesis, Paraplegia, Hemiparesis, Failure to thrive in infancy |
ORPHA:79124 |
| Parkinson Disease, Late-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor, Substantia nigra gliosis, Dystonia,... |
OMIM:168600 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Impaired vibration sensation in the lower li... |
ORPHA:447753 |
| Japanese Encephalitis |
|
Hypertonia, Hyperintensity of MRI T2 signal of the spinal cord, Opisthotonus, Respiratory paralys... |
ORPHA:79139 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Sensory ataxia, Hypoesthesia, Dysmetria, Myoclonus, Babinski sign, Posi... |
OMIM:607459 |
| Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Spastic paraparesis, Poor coordination, Impaired vibratory sensation, Abnormal... |
OMIM:238970 |
| Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Cerebral palsy, Abnormal pyramidal sign, Gait disturbance, Tremor, Choreoathetosis, Spast... |
ORPHA:765 |
| Farber Disease |
|
Paraparesis, Failure to thrive, Myoclonus, Spasticity |
ORPHA:333 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... |
ORPHA:247234 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Spasticity |
OMIM:611895 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Fatal Familial Insomnia |
|
Ataxia, Weight loss, Myoclonus |
OMIM:600072 |
| Mohr-Tranebjaerg Syndrome |
|
Oromandibular dystonia, Inability to walk, Ankle clonus, Babinski sign, Abnormal pyramidal sign, ... |
ORPHA:52368 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Ataxia, Inability to walk, Spastic paraparesis, Abnormal pyramidal sign, Dista... |
ORPHA:254930 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Tremor, Gait at... |
OMIM:614381 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Hemiparesis, Tremor, Obesity |
OMIM:619737 |
| Majeed Syndrome |
|
Failure to thrive, Weight loss, Cachexia |
ORPHA:77297 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
| Rhabdoid Tumor |
|
Hemiplegia, Cerebral palsy, Weight loss |
ORPHA:69077 |
| Migraine, Familial Hemiplegic, 2 |
|
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Apraxia, Episodic ataxia |
OMIM:602481 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Cachexia |
OMIM:175500 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Bradykinesia, Poor fine motor coordination, Tremor, Incoordination |
ORPHA:36387 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Parkinsonism |
OMIM:615911 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... |
ORPHA:280229 |
| Bilateral Perisylvian Polymicrogyria |
|
Paraparesis, Pseudobulbar paralysis, Dysmetria, Limb hypertonia, Oromotor apraxia, Spasticity, Sp... |
ORPHA:98889 |
| Sneddon Syndrome |
|
Tremor, Hemiparesis, Chorea |
ORPHA:820 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Hypoesthesia, Allodynia, Cachexia, Distal sensory impairment, Weight loss |
OMIM:603041 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Action tremor, Gliosis, Decreased body weight, Dysmetria, Myoclonus, Hyperkin... |
OMIM:615273 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Spastic paraparesis, Hand tremor, Dysmetria, Truncal obesity, Unsteady gait |
ORPHA:3041 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis, Spasticity |
OMIM:616239 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Lingual dystonia, Action tremor, Gliosis, Inability to walk, Small for gestati... |
ORPHA:404454 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Failure to thrive, Inability to walk, Dysmetria, Appendicular spasticity, Tremo... |
OMIM:617988 |
| Igg4-Related Pachymeningitis |
|
Paraparesis, Somatic sensory dysfunction, Abnormal spinal dura mater morphology, Spinal cord comp... |
ORPHA:449427 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Gait disturbance, Tremor, Hypertonia |
ORPHA:1192 |
| Oculodentodigital Dysplasia |
|
Paraparesis, Ataxia, Spasticity, Tetraparesis |
OMIM:164200 |
| Cockayne Syndrome |
|
Hypertonia, Ataxia, Action tremor, Gliosis, Inability to walk, Intention tremor, Cachexia, Limb h... |
ORPHA:191 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss |
ORPHA:79242 |
| Multiple Carboxylase Deficiency |
|
Ataxia, Spinal cord posterior columns myelin loss, Spastic paraparesis |
ORPHA:148 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Ataxia, Decerebrate rigidity, Gait disturbance, Tremor, Spasticity, Unsteady g... |
ORPHA:354 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Tongue fasciculations, Abnormal anterior horn cell morphology |
ORPHA:1145 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Decreased body weight |
OMIM:278760 |
| Parkinson-Dementia Syndrome |
|
Tremor, Rigidity, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Limb ataxia, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Impaired distal vibration sens... |
OMIM:606002 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Failure to thrive |
OMIM:617744 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Apraxia, Gliosis, Parkinsonism, Repetitive compulsive behavior |
OMIM:607485 |
| Waardenburg Syndrome, Type 4A |
|
Ataxia, Spastic paraparesis |
OMIM:277580 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Failure to thrive, Ataxia, Spastic paraparesis, Hemiparesis, Lower limb spasticity, Gait disturba... |
ORPHA:395 |
| Myopathy With Extrapyramidal Signs |
|
Ataxia, Clumsiness, Chorea, Frequent falls, Tremor, Difficulty walking, Choreoathetosis, Clonus, ... |
OMIM:615673 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Action tremor, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Dysdi... |
ORPHA:309854 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
| Silver-Russell Syndrome |
|
Obesity, Failure to thrive in infancy, Cachexia |
ORPHA:813 |
| Non-Functioning Paraganglioma |
|
Tremor, Weight loss, Vocal cord paralysis |
ORPHA:94080 |
| Parkinson Disease 20, Early-Onset |
|
Bradykinesia, Rigidity, Parkinsonism, Eyelid apraxia, Tremor, Shuffling gait, Dystonia |
OMIM:615530 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypertonia, Gliosis, Opisthotonus, Myoclonic spasms, Spastic tetraplegia |
OMIM:252160 |
| Familial Colorectal Cancer Type X |
|
Hypertonia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Glioblastoma multi... |
ORPHA:440437 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia, Poor coordination |
OMIM:610965 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Failure to thrive, Gliosis |
ORPHA:261652 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Broad-based gait, Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, T... |
ORPHA:98794 |
| Lynch Syndrome |
|
Hypertonia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Glioblastoma multi... |
ORPHA:144 |
| Wilson Disease |
|
