Conditions / Genetic
hypermanganesemia with dystonia 2
info · Genetic
A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
Signs and symptoms
- Impaired mastication
- Inability to walk
- Dystonia
- Hypotonia
- Hyperintensity of cerebral white matter on MRI
- Generalized dystonia
- Parkinsonism
- Tip-toe gait
- Scissor gait
- Oromandibular dystonia