Hypermanganesemia With Dystonia 2

Alternative Names

  • HMNDYT2
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WHO-ICD-10 version:2010
OMIM Number

617013

Gene Map Locus

8p21.3

Description

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

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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...
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