Hypermanganesemia with Dystonia
Autoszomális recesszív
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.
Mit változtat a diagnózis
Knowing allows early treatment with chelation therapy and iron supplementation, which can lower manganese levels and may improve or stabilise symptoms.
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
- hypermanganesemia with dystonia 2
