Dystonia-parkinsonism-hypermanganesemia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Dystonia-parkinsonism-hypermanganesemia syndrome

A rare disorder of manganese transport characterized by progressive movement disorder and elevated blood manganese levels. Patients present in infancy or early childhood with loss of motor milestones rapidly progressive dystonia spasticity bulbar dysfunction and parkinsonism resulting in loss of independent ambulation. Cognition may be impaired but is generally better preserved than motor function. Additional manifestations include abnormal head growth and skull deformities. Brain MRI shows abnormalities of the basal ganglia variably also of other brain regions.

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: //www.orphadata.org. Data version October 2023.

Newly diagnosed with
Dystonia-parkinsonism-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

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.