Hypermanganesaemia with dystonia 1 (HMNDYT1): management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hypermanganesaemia with dystonia 1 (HMNDYT1): management. High serum manganese, Depleted iron stores. Fully referenced neurology checklist.
Serum tests
- High serum manganese
- Depleted iron stores
- Hyperbilirubinaemia
- Polycythaemia
Magnetic resonance imaging (MRI): features
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Dopamine transporter (DaT) scan
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Treatment
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Synonym
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References
- Anagianni S, Tuschl K. Genetic disorders of manganese metabolism. Curr Neurol Neurosci Rep 2019; 19:33.
- Stamelou May, Tuschl K, Chong WK, et al. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov Disord 2012; 27:1317-1322.
- Padmanabha H, Krishnamurthy S, Sharath Kumar GG, Chikkanayakana I, Sethuraman A, Mathew T. Teaching NeuroImages: an imaging clue for treatable early childhood-onset dystonia: manganism. Neurology 2019; 92:e628-e629.
- Mukhtiar K, Ibrahim S, Tuschl K, Mills P. Hypermanganesemia with dystonia, polycythemia and cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. Brain Dev 2016; 38:862-865.
