Spinal Bulbar Muscular Atrophy - SBMA
This is a rare, X-linked recessive neuromuscular disease, caused by a mutation in the androgen receptor. It may also be due to de novo mutations. It affects both spinal and medulla nerves, causing muscle weakness and atrophy mainly in limbs, face and neck. Symptoms begin during adulthood between 30 and 50 years of age, but they may start earlier or later than these ages. Men show symptoms, while women are carriers of the disease, but in rare cases they may experience even milder symptoms. The incidence of the disease is 1: 40,000 worldwide.
Older women (60-70 years old) may experience cramping and stinging.
It is symptomatic and includes physical therapies, rehabilitation therapies, medication to treat cramps and horror, hormone therapy and surgical restoration of gynecomastia, feeding tube fitting, respiratory support, use of supportive means of movement (eg walking stick, wheelchair).
For follow-up clinical trials on the disease visit: https://clinicaltrials.gov/ct2/home
Muscular Dystrophy Association