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hypermanganesemia with dystonia 2

Disease Summary
Associated Targets (1)


Mondo Description Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene.
Uniprot Description A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.
Mondo Term and Equivalent IDs
MONDO:0014864:  hypermanganesemia with dystonia 2