Search for a rare disease
Other search option(s)
Adult-onset dystonia-parkinsonism
Disease definition
Adult-onset dystonia-parkinsonism is 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.
ORPHA:199351
Summary
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.
Detailed information
Article for general public
Professionals
- Summary information
- Russian (2013, pdf)
- Review article
- English (2011)
- Clinical practice guidelines
- English (2011)
- Clinical genetics review
- English (2017)
Additional information