Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women
BJ Schmidt, CR Greenberg, DJ Allingham–Hawkins… - Neurology, 2002 - AAN Enterprises
BJ Schmidt, CR Greenberg, DJ Allingham–Hawkins, EL Spriggs
Neurology, 2002•AAN EnterprisesThe 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.
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.
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.
American Academy of Neurology