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Results 1 - 9 of 9 for Dystonia with cerebellar atrophy
  1. ATP1A3 gene 
    ... movement abnormalities seen in people with rapid-onset dystonia parkinsonism. More About This Health Condition Variants in the ATP1A3 gene can cause a group of features: cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. This specific presentation is ...
    https://medlineplus.gov/genetics/gene/atp1a3 - Genetics
  2. Primary coenzyme Q10 deficiency 
    ... the brain that is involved in coordinating movement (cerebellum). Other ... caused by degeneration (atrophy) of the optic nerves or breakdown of the ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  3. Pontocerebellar hypoplasia 
    Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  4. TUBB4A-related leukodystrophy 
    ... in another region involved in movement called the cerebellum is common, and atrophy of the cerebrum, which controls most voluntary activity, ... the spectrum have mild hypomyelination and sometimes mild atrophy of the cerebellum, but no problems with the basal ganglia. These ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  5. Spinocerebellar ataxia type 1 
    ... arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, rigidity, tremors, and ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-1 - Genetics
  6. TUBB4A gene 
    ... of severity, with a condition called hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) at the most severe end of ... Wolf NI, van der Knaap MS. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype ...
    https://medlineplus.gov/genetics/gene/tubb4a - Genetics
  7. Spinocerebellar ataxia type 2 
    ... weakness in the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle tensing (dystonia), and involuntary jerking movements (chorea). Some people with ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-2 - Genetics
  8. Triosephosphate isomerase deficiency 
    ... This impairment leads to muscle weakness and wasting (atrophy) and causes the movement problems typical of triosephosphate isomerase deficiency, including involuntary muscle tensing (dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals ...
    https://medlineplus.gov/.../triosephosphate-isomerase-deficiency - Genetics
  9. Leigh syndrome 
    ... develop weak muscle tone (hypotonia), involuntary muscle contractions (dystonia), and problems with movement and balance (ataxia). Loss ... the basal ganglia, which help control movement; the cerebellum, which controls the ability to balance and coordinates ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics