Kennedy's disease
Kennedy's Disease
Kennedy's Disease (pronounced: kɛnɪdi:z dɪˈziːz), also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare, X-linked recessive disease. It is named after Dr. William R. Kennedy, who first described it in 1968.
Etymology
The term "Kennedy's Disease" is derived from the name of the neurologist who first described the condition, Dr. William R. Kennedy. The alternative name, "Spinal and Bulbar Muscular Atrophy", describes the areas of the body most affected by the disease - the spinal cord and the bulbar region of the brain.
Definition
Kennedy's Disease is a neurodegenerative disorder characterized by the gradual weakening and wasting of the muscles, particularly those in the arms and legs, and bulbar muscles. It is caused by a mutation in the androgen receptor (AR) gene.
Symptoms
Symptoms of Kennedy's Disease include muscle weakness, tremors, and difficulty swallowing and speaking. These symptoms are due to the degeneration of motor neurons in the spinal cord and bulbar region of the brain.
Diagnosis
Diagnosis of Kennedy's Disease is typically made through a combination of clinical examination, family history, and genetic testing. The definitive diagnosis is made by identifying the mutation in the AR gene.
Treatment
There is currently no cure for Kennedy's Disease. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and speech therapy.
Prognosis
The prognosis for individuals with Kennedy's Disease varies. While the disease is progressive, most individuals maintain the ability to walk and live independently for many years after diagnosis.
Related Terms
External links
- Medical encyclopedia article on Kennedy's disease
- Wikipedia's article - Kennedy's disease
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