Conditions / Genetic
spastic ataxia 4
info · Genetic
A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.
Signs and symptoms
- Dysarthria
- Gait ataxia
- Optic atrophy
- Babinski sign
- Hyperactive patellar reflex
- Limb ataxia
- Decreased Achilles reflex
- Emotional lability
- Lower limb hypertonia
- Spastic ataxia