Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

Newly diagnosed with
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

The Assistance Fund

The Assistance Fund (TAF) is an independent charitable patient assistance organization that helps patients and families facing high medical out-of-pocket costs by providing financial assistance for their copayments, coinsurance, deductibles, and other health-related expenses. We currently manage more than 80 disease programs, each of which covers all FDA-approved treatment for the disease named in the program. Since 2009, TAF has helped nearly 180,000 people access critical treatment for life-threatening, chronic, and rare diseases.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.