Conditions / Genetic
autosomal recessive spinocerebellar ataxia 22
info · Genetic
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2.
Signs and symptoms
- Truncal ataxia
- Hypoplasia of the corpus callosum
- Dysmetria
- Cerebellar atrophy
- Dysarthria
- Ataxia
- Lower limb spasticity
- Intention tremor
- Nystagmus
- Abnormal pyramidal sign
Also known as: SCAR22