Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat

    July 2014 in “ Neuromuscular Disorders ”
    Christopher Grunseich, Ilona Kats, Laura C. Bott, Carlo Rinaldi, Angela Kokkinis, Derrick Fox, Ke-lian Chen, Alice B. Schindler, Ami Mankodi, Joseph A. Shrader, Daniel P. Schwartz, Tanya Lehky, Chia-Ying Liu, Kenneth H. Fischbeck
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    TLDR A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
    In the 2014 case report, a 29-year-old male with spinal and bulbar muscular atrophy (SBMA) exhibited a 68 CAG repeat expansion in the androgen receptor gene, surpassing the previously reported maximum of 62 repeats. The patient's symptoms began at age 18 and included atypical features for SBMA, such as autonomic dysfunction and abnormal sexual development. The findings suggested that a larger CAG repeat expansion might result in a wider range of disease symptoms, thus broadening the known phenotype of SBMA and providing further understanding of the mutated androgen receptor's impact.
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