Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).
Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the 3rd or 4th decade, spreading to generalisation within two to five years. The dystonia coexists or is replaced by parkinsonism usually beyond the 10th year of illness. No treatment has been found to be effective. Neuroimaging shows caudate and putamenal atrophy in patients reaching the parkinsonian stage. Neuropathology reveals pronounced atrophy of the caudate and putamen, mostly in the cases with long standing illness. The sex linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1, with one group mapping the XDP gene to a < 350 kb locus in the DXS 7117-DXS 559 region.
Lee
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LV
Child Neuroscience Department, Philippine Children's Medical Center, Quezon Avenue, Quezon City, Philippines. dralee@hiss.pcmc.org.ph
Munoz
E L
EL
Tan
K T
KT
Reyes
M T
MT
D000328:Adult; D001921:Brain / Q000473:pathology; D004421:Dystonia / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010679:Philippines / Q000453:epidemiology; D015995:Prevalence; D014055:Tomography, Emission-Computed; D014960:X Chromosome