Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women.
The authors describe the novel occurrence of homozygosity for the CAG expansion in the androgen receptor gene causing Kennedy disease in two sisters (ages 34 and 42). Symptoms were limited to occasional muscle cramps and twitches. Physical examinations were normal apart from mild hand tremor in both women and rare perioral fasciculations in the older sibling. Electrodiagnostic studies were normal except for evidence of mild motor axonal loss in the sternocleidomastoid muscle of the older sibling.
Schmidt
Brian J
BJ
Department of Medicine, Section of Neurology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada. brian@scrc.umanitoba.ca
Greenberg
Cheryl R
CR
Allingham-Hawkins
Diane J
DJ
Spriggs
Elizabeth L
EL
D000328:Adult; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D014960:X Chromosome