Conditions / Genetic
spinocerebellar ataxia 29
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
Signs and symptoms
- Decreased body weight
- Inability to walk
- Strabismus
- Dystonia
- Renal hypoplasia
- Short stature
- Generalized hypotonia
- Slow saccadic eye movements
- Bruxism
- Rotary nystagmus