Hypermanganesaemia with dystonia 1 (HMNDYT1): clinical features
Evidence-based neurology checklist on hypermanganesaemia with dystonia 1 (hmndyt1): clinical features: Genetics This is caused by mutations in the SLC30A10 gene The gene product is a cell surface manganese efflux transporter The transmission is autosomal recessive The mutation leads to manganese…
Genetics
- This is caused by mutations in the SLC30A10 gene
- The gene product is a cell surface manganese efflux transporter
- The transmission is autosomal recessive
- The mutation leads to manganese accumulation in the liver and the brain
Neurological features
Systemic features
Treatment
Synonym
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.
- Garg D, Yoganathan S, Shamim U, et al. Clinical profile and treatment outcomes of hypermanganesemia with dystonia 1 and 2 among 27 Indian children. Mov Disord Clin Pract 2022; 9:886-899.
- Avelino MA, Fusão EF, Pedroso JL, et al. Inherited manganism: the "cock-walk" gait and typical neuroimaging features. J Neurol Sci 2014; 341:150-152.
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