ataxia-oculomotor apraxia 3

info · Genetic

An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13.

Signs and symptoms

Dysmetria
Cerebellar atrophy
Distal amyotrophy
Dysarthria
Ataxia
Slow saccadic eye movements
Elevated circulating alpha-fetoprotein concentration
Distal sensory impairment
Frequent falls
Peripheral axonal neuropathy

Also known as: ataxia with oculomotor apraxia type 3