Hypermanganesemia with Dystonia
Autozomálně recesivní
Accumulation of manganese in the brain and other organs caused by variants in SLC30A10 or SLC39A14, leading to progressive dystonia and parkinsonism and, with SLC30A10, liver disease and polycythaemia.
Co se diagnózou změní
Knowing allows early treatment with chelation therapy and iron supplementation, which can lower manganese levels and may improve or stabilise symptoms.
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
- hypermanganesemia with dystonia 2
