Hypermanganesemia With Dystonia 2

Alternative Names

Back to search Result
WHO-ICD-10 version:2010
OMIM Number


Gene Map Locus



Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617013.1.1United Arab EmiratesFemaleNoYes Generalized dystonia; Failure to thrive;... NM_001128431.4:c.751-9C>GHomozygousAutosomal, RecessiveRodan et al. 2018 'Patient 1' in the p...
617013.2United Arab EmiratesFemaleYes Motor regression; Dysphagia; Loss of spe... NM_001128431.4:c.751-9C>GHomozygousAutosomal, RecessiveRodan et al. 2018 'Patient 2' in the p...
© CAGS 2021. All rights reserved.