Conditions / Genetic
early-onset dystonia and/or spastic paraplegia
info · Genetic
A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1.
Signs and symptoms
- Dystonia
- Gait disturbance
- Lower limb muscle weakness
- Spastic paraplegia
- Laryngeal dystonia
- Hyperreflexia