Conditions / Genetic
spastic ataxia 5
info · Genetic
A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11.
Signs and symptoms
- Bilateral tonic-clonic seizure
- Dysmetria
- Dystonia
- Generalized myoclonic seizure
- Cerebellar atrophy
- Distal amyotrophy
- Ataxia
- Sensorimotor neuropathy
- Lower limb muscle weakness
- Oculomotor apraxia