Phenomenology of "Lubag" or X-linked dystonia-parkinsonism

Mov Disord. 2002 Nov;17(6):1271-7. doi: 10.1002/mds.10271.

Abstract

X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay. We present cinematographic material of 11 cases of Lubag carrying the XDP haplotypes who manifest with a wide spectrum of movement disorders, including dystonia, tremor, parkinsonism, myoclonus, chorea, and myorhythmia. Because of overlapping features, Lubag patients are commonly misdiagnosed as idiopathic dystonia, essential tremor, Parkinson's disease, or Parkinson's-plus syndromes. Thus, it is imperative to elicit an exhaustive family history in any Filipino male adult who presents with a movement disorder.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Dystonic Disorders / diagnosis
  • Dystonic Disorders / genetics*
  • Ethnicity / genetics*
  • Genetic Carrier Screening
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Markers / genetics
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Neurologic Examination
  • Parkinsonian Disorders / diagnosis
  • Parkinsonian Disorders / genetics*
  • Phenotype
  • Philippines / ethnology
  • United States

Substances

  • Genetic Markers