Conditions / Genetic
X-linked spinocerebellar ataxia 5
info · Genetic
An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1.
Signs and symptoms
- Nystagmus
- Dysarthria
- Ataxia
- Motor delay
- Neonatal hypotonia
- Action tremor
- Intellectual disability
Also known as: SCAX5; Spinocerebellar Ataxia, X-Linked 5; X-linked non progressive cerebellar ataxia