Conditions / Genetic
spastic ataxia 8
info · Genetic
A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21.
Signs and symptoms
- Dystonia
- Hypotonia
- Ataxia
- Motor delay
- Nystagmus
- Head titubation
- Hyperreflexia
- Upgaze palsy
- Abnormal pyramidal sign
- Spasticity