Disease association ontology term - MONDO:0014417 - spinocerebellar ataxia type 38

Term summary

ID

MONDO:0014417

Name

spinocerebellar ataxia type 38

Ontology or CV name

Disease association

Definition

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.

Parents

• is_a disorder of phospholipids, sphingolipids and fatty acids biosynthesis
• is_a autosomal dominant cerebellar ataxia type III

Annotation