Conditions / Genetic
X-linked spinocerebellar ataxia 1
info · Genetic
An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28.
Signs and symptoms
- Action tremor
- Cerebellar atrophy
- Ataxia
- Motor delay
- Intention tremor
- Unsteady gait
- Difficulty standing
- Dysphagia
- Strabismus
- Dysarthria
Also known as: SCAX1; X-linked progressive cerebellar ataxia