Adult spinal muscular atrophy (ASMA), also known as Kennedy's disease, is a rare genetic disorder that primarily affects the motor neurons in the spinal cord. It is characterized by the gradual degeneration and loss of these motor neurons, which leads to progressive muscle weakness and wasting, particularly in the limbs and trunk area.
ASMA is a hereditary condition caused by a mutation in the androgen receptor gene located on the X chromosome. It is inherited in an X-linked recessive pattern, meaning that the disease is more common in males, while females typically carry the genetic mutation without developing symptoms.
The onset of ASMA often occurs in early to mid-adulthood, typically between the ages of 20 and 40. Initial symptoms may include muscle cramps, twitching, and weakness in the arms, legs, and facial muscles. As the disease progresses, individuals may experience difficulty with swallowing (dysphagia), speech impairment, muscle cramps, loss of body fat and muscle mass, and respiratory complications.
There is currently no cure for ASMA, and treatment primarily focuses on managing and alleviating the symptoms. This may involve physical and occupational therapy to maintain mobility and independence, assistive devices to aid with daily activities, medications to manage symptoms like muscle cramps and pain, and respiratory support to address breathing difficulties.
Overall, adult spinal muscular atrophy is a chronic, progressive, neurodegenerative disorder that impairs the voluntary muscles involved in movement. It is crucial for individuals affected by ASMA to work closely with a healthcare team to manage their symptoms and maintain their quality of life.
