Conditions / Genetic
dystonia 22, adult-onset
info · Genetic
A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene.
Signs and symptoms
- Torticollis
- Focal dystonia
- Mental deterioration
- Babinski sign
- Upper limb postural tremor
- Retrocollis
- Gait disturbance
- Motor delay