Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a treatable
disease caused by mutations in the SLC30A10 gene. 1, 2 Because of its rarity, treatment …

A new inherited metal storage disease characterized by hypermanganesaemia,
polycythaemia, dystonia or parkinsonism, and liver disease has been recently described as …

A 70-year-old woman with symmetric parkinsonism and vertical gaze paresis had an
elevated serum manganese level at 60.1 ng/mL (reference value, 4.7–18.3 ng/mL) because …

Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare 13
genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 14 …

OBJECTIVE: To investigate the saccadic features of Parkinsonism/Dystonia associated with
hypermanganesemia due to mutation in SLC30A10. BACKGROUND: Manganese (Mn) is an …

Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism
characterized by hypermanganesemia, polycythemia, early‐onset dystonia, and liver …

Manganese (Mn) is an essential element for metabolic pathways but it can be toxic when
present in excessive amounts in the body. Hypermanganesemia along with dystonia …

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive
neurodegenerative disorder characterized by the loss of previously acquired milestones …

Background: The first gene causing early‐onset generalized dystonia with brain manganese
accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a …

A 27-year-old man with cholestasis presented with 4 weeks of progressive spastic
quadriparesis and hypophonia. MRI revealed T2/fluid-attenuated inversion recovery …