Writer's cramp in an Australian pedigree with DYT1 dystonia.
Oppenheim's or DYT1 dystonia is a primary dystonia typically presenting in a limb at an early age and usually becoming generalised within 5 years. Over the last decade research into this debilitating disorder has progressed considerably, enabling the identification of a genetic lesion (a 3bp deletion in the DYT1 gene) now widely accepted as the cause of a majority of cases. This case report presents the first molecularly diagnosed pedigree of an Australian family with DYT1 dystonia, which presented as writer's cramp in the 15-year-old proband and two of his cousins.
van den Bos
Mehdi
M
Department of Neurology, Flinders Medical Center, South Australia, Australia.
Marotta
Rosetta
R
Goldup
Sandra
S
Chataway
Tim
T
Firgaira
Frank
F
Thyagarajan
Dominic
D
D000293:Adolescent; D001315:Australia / Q000208:ethnology; D004252:DNA Mutational Analysis; D004421:Dystonia / Q000150:complications* / Q000235:genetics*; D020821:Dystonic Disorders / Q000150:complications*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D010375:Pedigree
D018832:Molecular Chaperones; C108175:TOR1A protein, human