NBIA/DYT/PARK-PLA2G6
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 199351
Definition
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Epidemiology
Prevalence is unknown. Only 14 cases have been reported to date.
Clinical description
Disease onset occurs in late adolescence or early adulthood (usually before the age of 30) and usually presents with parkinsonism (tremor, rigidity, bradykinesia), dystonia and rapid cognitive decline. Eye movement abnormalities (supranuclear vertical gaze palsy, eyelid opening apraxia), pyramidal tract signs, and psychiatric features such as depression and personality changes have also been reported in some patients. Dopaminergic treatment is initially successful with regard to parkinsonism, but the development of prominent dyskinesias often follows.
Etiology
Adult-onset dystonia-parkinsonism is caused by mutations in the phospholipase A2, group VI ( PLA2G6 ) gene located on chromosome 22q13.1.
Genetic counseling
Adult-onset dystonia-parkinsonism is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Milwaukee, WI, 53202-3823, United States Phone: +1-414-276-2145 Fax : +1-414-276-3349 Email: info@movementdisorders.org Url: https://www.movementdisorders.org/
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