Conditions / Genetic
dystonia 22, juvenile-onset
info · Genetic
A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22.
Signs and symptoms
- Torticollis
- Cerebellar atrophy
- Dysarthria
- Oromandibular dystonia
- Laryngeal dystonia
- Generalized dystonia
- Mental deterioration
- Hypometric saccades
- Slow saccadic eye movements
- Bilateral tonic-clonic seizure