spinocerebellar ataxia type 40
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.
MONDO:0019792
autosomal dominant cerebellar ataxia type I
is_a
SCA40
exact
spinocerebellar ataxia 40
related
spinocerebellar ataxia type 40
exact