Spinocerebellar ataxia type 40

Definition

Spinocerebellar 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.

Also known as SCA40, spinocerebellar ataxia type 40 — per MONDO

Also identified as

• DOID 0050986 per MONDO
• OMIM 616053 per MONDO
• Orphanet 423275 per MONDO
• SCTID 734020000 per MONDO
• UMLS C4518336 per MONDO