GTR Home > Conditions/Phenotypes > Dystonia 3, torsion, X-linked

Disease characteristics

Excerpted from the GeneReview: X-Linked Dystonia-Parkinsonism
Individuals with X-linked dystonia-parkinsonism (XDP) have dystonia of varying severity and parkinsonism. XDP afflicts primarily Filipino men and, rarely, women. The mean age of onset in men is 39 years; the clinical course is highly variable with parkinsonism as the initial presenting sign, overshadowed by dystonia as the disease progresses. Features of parkinsonism include resting tremor, bradykinesia, rigidity, postural instability, and severe shuffling gait. The dystonia develops focally, most commonly in the jaw, neck, trunk, and eyes, and less commonly in the limbs, tongue, pharynx, and larynx, the most characteristic being jaw dystonia often progressing to neck dystonia. Individuals with pure parkinsonism have non-disabling symptoms that are only slowly progressive; those who develop a combination of parkinsonism and dystonia can develop multifocal or generalized symptoms within a few years and die prematurely from pneumonia or intercurrent infections. Female carriers are mostly asymptomatic.

Available tests

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Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, N-TAF1, NSCL2, OF, P250, TAF(II)250, TAF2A, TAFII-250, TAFII250, XDP, TAF1
    Summary: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa

Clinical features

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  • Parkinsonism with favorable response to dopaminergic medication
  • Tremor
  • Torsion dystonia
  • Myoclonus
  • Chorea

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