Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family.
Adolescent-onset scoliosis occurs more frequently than expected in primary adult-onset cervical dystonia and a genetic association between the conditions has been postulated. The authors report a family in which four members have adult-onset cervical and/or brachial dystonia, two of whom have coexistent scoliosis. Four other individuals have isolated childhood- or adolescent-onset scoliosis. Adolescent-onset scoliosis may represent part of the dystonia phenotype in this family.
O'Riordan
Sean
S
Department of Neurology, St Vincent's University Hospital, Elm Park, Dublin 4, Ireland.
Lynch
Timothy
T
Hutchinson
Michael
M
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D001132:Arm / Q000503:physiopathology; D004252:DNA Mutational Analysis; D020821:Dystonic Disorders / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007494:Ireland; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012600:Scoliosis / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D014103:Torticollis / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D014202:Tremor / Q000235:genetics / Q000503:physiopathology
D018832:Molecular Chaperones; C108175:TOR1A protein, human