X-linked dystonia parkinsonism

The parkinsonian features of X-linked dystonia parkinsonism include festinating gait, bradykinesia, blepharospasm, and postural instability.

[citation needed] X-linked dystonia parkinsonism is thought to result from a mutation of the TAF1 (TATA-binding protein-associated factor 1) gene at Xq13.1.

Genetic analysis suggests that the responsible mutation was introduced into the ethnic groups of Panay (especially to the Hiligaynon people) over two millennia ago.

[6] Although all early reported cases occurred in the Philippines, X-linked dystonia parkinsonism has been diagnosed in Japan, US, Canada, and Germany in people of Filipino descent.

As an X-linked recessive disease, the majority of those affected are males with females generally being asymptomatic carriers.