Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management

In 2013, spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, was recognized as an X-linked motor neuron disease caused by a genetic mutation in the androgen receptor gene, leading to muscle weakness and signs of androgen insensitivity. There was no cure or treatment to change the disease's progression, although symptomatic therapy could provide some relief. Diagnosis was confirmed through genetic testing, and clinical management aimed at preventing complications, with patients generally maintaining a normal life expectancy despite potential issues such as choking and aspiration pneumonia. Clinical trials with androgen-reducing agents had not shown significant benefits, and while a small study with eight subjects indicated that moderate-intensity aerobic exercise might improve work capacity, it did not affect maximal oxygen uptake, suggesting the need for personalized exercise plans. Further research was necessary to explore the potential benefits of exercise for SBMA patients.