Conditions / Genetic
autosomal recessive spinocerebellar ataxia 21
info · Genetic
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
Signs and symptoms
- Gait ataxia
- Stuttering
- Hepatomegaly
- Distal muscle weakness
- Splenomegaly
- Cerebellar vermis atrophy
- Skeletal muscle atrophy
- Hepatic bridging fibrosis
- Tremor
- Hepatic fibrosis
Also known as: SCAR21; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; autosomal recessive spinocerebellar ataxia 21 with hepatopathy