protein in all tissues except skeletal muscle, muscle atrophy, neuromuscular degeneration, and survival were significantly improved. Further, treatment of mouse models of SBMA with antisense oligonucleotides targeting the polyglutamine androgen receptor reduced disease burden when administered subcutaneously though they could not cross the blood brain barrier. However, when administered intrathecally into the CNS, disease was not rescued. Inheritance SBMA is a hereditary syndrome, inherited in an X-linked recessive manner. It is transmitted to offspring through the expanded (mutant) CAG repeat in the AR gene of the X chromosome. If the person with the mutant AR gene is a father, he cannot pass the gene on to his sons. However, he will pass the mutant gene on to all daughters. If the person with the mutant gene is female, she is a carrier. With a carrier, there is a 50% chance that the mutant gene will be passed to any offspring, male or female. Genetic founder effects are likely to be responsible for the higher prevalence of SBMA observed in certain geographic regions. Diagnosis Spinal and bulbar muscular atrophy may be suspected in males with gynecomastia, limb weakness, muscle cramps, and bulbar involvement such as fasciculations, dysarthria or dysphagia. Diagnosis of SBMA is established by genetic testing that identifies a CAG trinucleotide repeat expansion in the AR gene. If more than 38 CAG repeats are identified, it is usually considered confirmatory of SBMA. However, there is evidence for reduced penetrance with 36-37 CAG repeats. Management There is no known cure for SBMA. Supportive care is focused on preventing disease complications (falls, fractures, aspiration) and maintaining independence. Early interventions include occupational therapy to maintain mobility and activities of daily living. Common mobility aids include canes, mobility scooters, power wheelchairs, ramps, and stair lifts. As the disease progresses, swallowing difficulties (dysphagia) become more common and patients are at increased risk of aspiration pneumonia. Swallowing interventions include dietary modifications (adjust food texture and consistency), postural techniques, and swallowing maneuvers. Respiratory therapy maybe helpful to reduce respiratory tract infections and mobilize phlegm. Exercise Exercise has been shown to provide a variety of benefits in several neuromuscular diseases. However, in SBMA patients, exercise can have both positive and negative impacts. In a study with 8 SBMA patients, moderate-intensity exercise was not well tolerated, and exercise frequency was decreased prior to the end of the training program. Levels of creatine kinase (CK), a biomarker of muscle degeneration,