Kennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare genetic disorder that primarily affects males. It is caused by a mutation in the androgen receptor gene on the X chromosome, which leads to the degeneration and loss of motor neurons in the spinal cord and brainstem.
Symptoms of Kennedy's disease typically begin in adulthood, usually between the ages of 30 and 50, and may include:
Weakness and wasting of muscles, particularly in the face, neck, arms, and legs
Difficulty with speech, including slurred speech and a nasal or breathy voice
Difficulty swallowing (dysphagia) and choking on food or liquids
Muscle cramps and twitches
Erectile dysfunction and/or gynecomastia (enlarged breast tissue in males)
Treatment may include:
Physical therapy and occupational therapy to improve mobility and daily living skills
Speech therapy and/or assistive communication devices to improve communication and swallowing abilities
Use of mobility aids, such as a wheelchair or walker, to help maintain mobility and independence
Medications to manage symptoms such as muscle cramps and spasticity
Management of breathing difficulties, such as the use of a non-invasive ventilation (NIV) device during sleep
Genetic counseling and family planning to prevent the transmission of the mutation to future generations.