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GTR Home > Conditions/Phenotypes > Spinocerebellar ataxia type 19/22

Spinocerebellar ataxia type 19/22

Synonyms
Spinocerebellar ataxia 19; Spinocerebellar ataxia 22
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Spinocerebellar ataxia-19 (SCA19) is an autosomal dominant disorder characterized by progressive cerebellar ataxia with a variable age of onset (age 2 years to late adulthood). Other neurologic manifestations include developmental delay and cognitive impairment; movement disorders including myoclonus, dystonia, rigidity, and bradykinesia; and seizures. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

Available tests

43 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRGDA9, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22, KCND3
    Summary: potassium voltage-gated channel subfamily D member 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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