spinocerebellar ataxia type 38
Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0019793
autosomal dominant cerebellar ataxia type III
is_a
SCA38
exact
spinocerebellar ataxia 38
related
spinocerebellar ataxia type 38
exact
SPAC1B2.03c SPAC1639.01c