Conditions / Genetic
hypermanganesemia with dystonia 1
info · Genetic
A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1
A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.
Signs and symptoms
- Hypermanganesemia
- Dystonia
- Cirrhosis
- Bradykinesia
- Decreased liver function
- Parkinsonism
- Steppage gait
- Increased total iron binding capacity
- Dysarthria
- Rigidity