Orphanet: Cirrhosis dystonia polycythemia hypermanganesemia syndrome

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Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Disease definition

A rare disorder of manganese transport characterized by childhood onset of extrapyramidal movement disorder (including dystonia, tremor, and bradykinesia), liver cirrhosis, polycythemia, and hypermanganesemia. Cases with spastic paraparesis without extrapyramidal dysfunction have also been reported. Cognitive functions are preserved. Brain imaging findings are consistent with deposition of manganese in the basal ganglia, dentate nucleus, brain stem, and anterior pituitary.

ORPHA:309854

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Childhood
ICD-10: E88.8
OMIM: 613280
UMLS: C2750442
MeSH: -
GARD: 10706
MedDRA: -

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Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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