Spinobulbar muscular atrophy, also known as Kennedy’s disease, is a rare inherited neuromuscular disorder that belongs to a group of conditions called motor neuron diseases. It primarily affects males and is characterized by the progressive degeneration of motor neurons, which are specialized nerve cells that control movement.
Individuals with spinobulbar muscular atrophy typically develop symptoms in their adulthood, usually between the ages of 30 and 50. Early signs of the condition include muscle weakness, especially in the facial and bulbar muscles, which are responsible for speaking, swallowing, and breathing. This often leads to difficulties with speech, choking, and respiratory problems.
The disorder is caused by a genetic mutation in the androgen receptor (AR) gene on the X chromosome. This mutation leads to the accumulation of a toxic form of the androgen receptor protein in motor neurons, disrupting their normal function and causing their gradual degeneration.
As spinobulbar muscular atrophy progresses, individuals may also experience muscle cramps, muscle twitching, difficulty walking, and muscle wasting. While the disorder primarily affects the muscles involved in movement, it does not affect an individual's intellect or cognitive abilities.
At present, there is no known cure for spinobulbar muscular atrophy. Treatment is typically focused on managing symptoms and improving quality of life. This may involve physical therapy to maintain muscle strength and flexibility, speech and swallowing therapy to address communication and swallowing difficulties, and respiratory support if breathing becomes severely impaired.
