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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.


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: -

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.