Phenomenology of "Lubag" or X-linked dystonia-parkinsonism.
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.
Evidente
Virgilio Gerald H
VG
Department of Neurology, Mayo Clinic, Scottsdale, Arizona 85259, USA. evidente.virgilio@mayo.edu
Advincula
Joel
J
Esteban
Raymund
R
Pasco
Paul
P
Alfon
Jhoe Anthony
JA
Natividad
Filipinas F
FF
Cuanang
Joven
J
Luis
Amado San
AS
Gwinn-Hardy
Katrina
K
Hardy
John
J
Hernandez
Dena
D
Singleton
Andrew
A
D000328:Adult; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009460:Neurologic Examination; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D010679:Philippines / Q000208:ethnology; D014481:United States
D005819:Genetic Markers