Dystonia 31 |
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Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... |
OMIM:619565 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Parkinson Disease 17 |
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Tremor, Resting tremor, Akinesia |
OMIM:614203 |
Spinocerebellar Ataxia Type 21 |
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Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
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Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ... |
ORPHA:240094 |
Atypical Juvenile Parkinsonism |
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Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped... |
ORPHA:391411 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait |
OMIM:619911 |
Corticobasal Syndrome |
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Somatic sensory dysfunction, Dystonia, Akinesia, Tremor, Gait disturbance, Limb dystonia |
ORPHA:454887 |
Segawa Syndrome, Autosomal Recessive |
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Tremor, Limb dystonia, Hypokinesia, Gait ataxia |
OMIM:605407 |
Striatal Degeneration, Autosomal Dominant 1 |
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Dysdiadochokinesis, Gait disturbance, Hypokinesia |
OMIM:609161 |
Spinocerebellar Ataxia 21 |
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Ataxia, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto... |
OMIM:607454 |
Spinocerebellar Ataxia Type 12 |
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Ataxia, Postural tremor, Action tremor, Unsteady gait, Gait disturbance, Limb dysmetria, Tremor b... |
ORPHA:98762 |
Kufor-Rakeb Syndrome |
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Torticollis, Ataxia, Akinesia, Tremor, Distal sensory impairment, Gait disturbance, Dystonia, Hyp... |
OMIM:606693 |
Fetal Akinesia Syndrome, X-Linked |
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Stillbirth, Hypokinesia |
OMIM:300073 |
Arthrogryposis Multiplex Congenita 6 |
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Neonatal death, Akinesia |
OMIM:619334 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti... |
ORPHA:247234 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Tremor, Akinesia, Dystonia |
OMIM:300894 |
Neuropathy, Congenital Hypomyelinating, 2 |
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Inability to walk, Hypokinesia, Sensory ataxia |
OMIM:618184 |
Perry Syndrome |
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Tremor, Short stepped shuffling gait, Akinesia, Dystonia |
OMIM:168605 |
Classic Progressive Supranuclear Palsy Syndrome |
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Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia |
ORPHA:240071 |
Congenital Myopathy 9A |
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Akinesia |
OMIM:618822 |
Manganese Poisoning |
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Postural tremor, Gait disturbance, Akinesia, Dystonia |
ORPHA:306682 |
Postencephalitic Parkinsonism |
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Resting tremor, Oculogyric crisis, Akinesia, Diminished movement, Paresthesia, Tremor by anatomic... |
ORPHA:97349 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
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Ataxia, Hypokinesia |
OMIM:620007 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Resting tremor, Akinesia, Limb dystonia |
OMIM:616840 |
Developmental And Epileptic Encephalopathy 37 |
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Choreoathetosis, Chorea, Gait disturbance, Hypokinesia |
OMIM:616981 |
Aceruloplasminemia |
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Torticollis, Ataxia, Akinesia, Tremor, Chorea, Limb ataxia, Gait ataxia, Blepharospasm, Dystonia,... |
ORPHA:48818 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, B... |
OMIM:128100 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
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Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Lethal Congenital Contracture Syndrome 2 |
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Akinesia |
OMIM:607598 |
Autosomal Recessive Dopa-Responsive Dystonia |
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Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Focal dystonia, Gait ataxia, Li... |
ORPHA:101150 |
Fetal Akinesia Deformation Sequence |
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Hypokinesia, Akinesia |
ORPHA:994 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Huntington Disease-Like 1 |
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Chorea, Dysmetria, Gait ataxia, Gait disturbance, Abnormal posturing, Hypokinesia |
ORPHA:157941 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Abnormal p... |
ORPHA:216866 |
Muscular Hypertonia, Lethal |
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Hypokinesia |
OMIM:254120 |
Mohr-Tranebjaerg Syndrome |
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Tremor, Abnormal posturing, Dystonia |
OMIM:304700 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Tremor, Somatic sensory dysfunction, Diminished movement, Focal dystonia |
ORPHA:240103 |
Infantile Dystonia-Parkinsonism |
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Chorea, Oculogyric crisis, Hypokinesia, Dystonia |
ORPHA:238455 |
Gaucher Disease, Perinatal Lethal |
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Neonatal death, Hypokinesia, Akinesia, Opisthotonus |
OMIM:608013 |
Congenital Myopathy 12 |
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Akinesia |
OMIM:612540 |
Combined Oxidative Phosphorylation Deficiency 6 |
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Hypokinesia |
OMIM:300816 |
Hereditary Late-Onset Parkinson Disease |
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Resting tremor, Shuffling gait, Akinesia, Dystonia |
ORPHA:411602 |
Multiple Pterygium Syndrome, Lethal Type |
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Akinesia |
OMIM:253290 |
Sporadic Infantile Bilateral Striatal Necrosis |
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Resting tremor, Chorea, Gait ataxia, Titubation, Gait disturbance, Dystonia, Abnormal posturing |
ORPHA:225147 |
Mercaptolactate-Cysteine Disulfiduria |
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Hypokinesia |
OMIM:249650 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
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Akinesia |
OMIM:225790 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Supranuclear Palsy, Progressive, 2 |
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Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis |
OMIM:609454 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Hypokinesia |
ORPHA:238329 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
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Akinesia |
OMIM:619147 |
Supranuclear Palsy, Progressive, 1 |
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Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia |
OMIM:601104 |
Spinocerebellar Ataxia Type 18 |
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Somatic sensory dysfunction, Dysmetria, Gait ataxia, Titubation, Head tremor |
ORPHA:98771 |
Hypermanganesemia With Dystonia 2 |
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Generalized dystonia, Dystonia, Tremor, Inability to walk, Scissor gait, Opisthotonus, Tip-toe ga... |
OMIM:617013 |
Brown-Vialetto-Van Laere Syndrome 2 |
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Ataxia, Hypokinesia |
OMIM:614707 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Dysmetr... |
OMIM:609270 |
Combined Oxidative Phosphorylation Deficiency 2 |
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Neonatal death, Hypokinesia |
OMIM:610498 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Ataxia, Akinesia, Tremor, Choreoathetosis, Blepharospasm, Gait disturbance, Dystonia |
OMIM:234200 |
Arthrogryposis Multiplex Congenita 5 |
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Dystonia, Akinesia, Hand tremor |
OMIM:618947 |
Huntington Disease |
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Inability to walk, Chorea, Gait disturbance, Gait imbalance, Difficulty walking, Dystonia, Hypoki... |
ORPHA:399 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Diminished movement, Limb tremor, C... |
OMIM:608643 |
Parkinson Disease 1, Autosomal Dominant |
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Resting tremor, Gait disturbance, Shuffling gait, Dystonia, Loss of ambulation, Hypokinesia |
OMIM:168601 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Hypokinesia |
OMIM:619063 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Broad-based gait, Ataxia, Inability to walk, Dystonia, Hypokinesia |
OMIM:617854 |
Intermediate Nemaline Myopathy |
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Hypokinesia, Difficulty walking |
ORPHA:171433 |
Pelizaeus-Merzbacher Disease, Classic Form |
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Dystonia, Ataxia, Dystonic gait, Titubation, Athetosis, Difficulty walking, Head tremor |
ORPHA:280219 |
Combined Oxidative Phosphorylation Deficiency 1 |
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Hypokinesia |
OMIM:609060 |
Autosomal Spastic Paraplegia Type 58 |
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Spastic ataxia, Torticollis, Tremor, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Titubation, T... |
ORPHA:397946 |
Dpagt1-Cdg |
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Tremor, Inability to walk, Ataxia, Akinesia |
ORPHA:86309 |
Hyperekplexia 1 |
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Exaggerated startle response, Hypokinesia |
OMIM:149400 |
Congenital Disorder Of Glycosylation, Type Iu |
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Hypokinesia |
OMIM:615042 |
African Trypanosomiasis |
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Somatic sensory dysfunction, Akinesia, Tremor, Impaired proprioception, Choreoathetosis, Paresthe... |
ORPHA:3385 |
Developmental And Epileptic Encephalopathy 28 |
|
Hypokinesia |
OMIM:616211 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Abnormal posturing |
OMIM:614857 |
Sandifer Syndrome |
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Abnormal posturing, Torticollis |
ORPHA:71272 |
Spastic Ataxia 1, Autosomal Dominant |
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Spastic ataxia, Gait disturbance, Dystonia |
OMIM:108600 |
Alg11-Cdg |
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Ataxia, Hypokinesia, Opisthotonus |
ORPHA:280071 |
Typical Nemaline Myopathy |
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Waddling gait, Gait disturbance, Hypokinesia |
ORPHA:171436 |
German Syndrome |
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Hypokinesia |
ORPHA:2077 |
Poliomyelitis |
|
Diminished movement, Inability to walk, Paresthesia |
ORPHA:2912 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypokinesia |
OMIM:613320 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Spastic ataxia, Tremor, Impaired vibration sensation in the lower limbs, Impaired proprioception,... |
ORPHA:251282 |
Myopathy, Centronuclear, X-Linked |
|
Hypokinesia |
OMIM:310400 |
Severe Congenital Nemaline Myopathy |
|
Hypokinesia |
ORPHA:171430 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Tremor, Gait ataxia, Gait disturbance, Hypokinesia |
ORPHA:254892 |
Wilson Disease |
|
Limb dystonia, Tremor, Hypoesthesia, Hand tremor, Dystonia, Hypokinesia |
OMIM:277900 |
Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Hypokinesia |
ORPHA:258 |
Isolated Posterior Meningocele |
|
Hypokinesia, Difficulty walking |
ORPHA:268810 |
Danon Disease |
|
Hypokinesia |
OMIM:300257 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Rat-Bite Fever |
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Diminished movement |
ORPHA:31205 |
Presynaptic Congenital Myasthenic Syndromes |
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Waddling gait, Tip-toe gait, Ataxia, Difficulty walking |
ORPHA:98914 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
|
OMIM:618323 |