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Spinocerebellar ataxia type 40
rareSpinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.
- Identifiers
- MONDO:0014475 OMIM:616053Orphanet:423275
- Causal genes
- CCDC88C
- Also known as
- SCA40 · spinocerebellar ataxia 40
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