Conditions / Genetic
autosomal recessive spinocerebellar ataxia 16
info · Genetic
An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13.
Signs and symptoms
- Truncal ataxia
- Cerebellar atrophy
- Dysarthria
- Limb ataxia
- Hyperreflexia
- Cerebellar hypoplasia
- Babinski sign
- Cognitive impairment
- Unsteady gait
- Hypogonadism
Also known as: SCAR16