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X-linked dystonia-parkinsonism

Orpha number ORPHA53351
Synonym(s) DYT3
Lubag
Prevalence <1 / 1 000 000
Inheritance
  • X-linked recessive
Age of onset Adulthood
ICD-10
  • G24.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

X-linked dystonia-parkinsonism (XDP) is characterized by the association of dystonia of varying severity with parkinsonism (bradykinesia, rigidity, loss of postural reflexes, and 'fine' resting tremor). XDP is reported primarily in men from the Panay Islands in the Philippines. The prevalence in the general population in the Philippines is estimated at 1/300,000. The age of onset varies between 30-38 years. The dystonia is usually focal (most commonly affecting the jaw, neck, trunk and eyes, and less commonly the limbs, tongue, pharynx and larynx) and tends to generalize in most patients within 10 years of onset. XDP is associated with mutations in the DYT3 locus (Xq13.1).


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Detailed information

Clinical practice guidelines
  • EN (2011)Patient Inform
Clinical genetics review
  • EN (2012)
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