Which clinical history findings are characteristic of X-linked spinobulbar muscular atrophy (SBMA) (Kennedy disease)?

Updated: Apr 28, 2014
  • Author: Hidehiro Takei, MD; Chief Editor: Adekunle M Adesina, MD, PhD  more...
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Answer

Answer

X-linked spinobulbar atrophy (SBMA) is clinically characterized by adult-onset limb and bulbar weakness, muscular atrophy, and fasciculation, with frequent occurrence of endocrine disturbances such as gynecomastia, testicular atrophy, hypercholesterolemia, and diabetes mellitus. Asymptomatic patients are also present.

One clinical study reported that the mean age at first onset of muscle weakness was 41 years and that the most common presenting symptom was muscle cramps, followed by tremors and leg weakness. [31] Also reported was that muscle strength and function correlated directly with serum testosterone levels.


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