Kennedy

Kennedy's Disease

Kennedy's Disease (pronounced: /ˈkɛnɪdiːz ˈdɪzɪz/), also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare, X-linked recessive disease. The term "Kennedy's Disease" is named after Dr. William R. Kennedy, who first described this disease in 1968.

Etymology

The term "Kennedy's Disease" is derived from the name of the neurologist Dr. William R. Kennedy, who first described the condition. The term "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 progressive weakening and wasting of the muscles, particularly those in the arms and legs, and the bulbar muscles, which control swallowing, speaking, and breathing.

Symptoms

Symptoms of Kennedy's Disease include weakness and wasting of the muscles of the arms and legs, difficulty swallowing and speaking, and, in some cases, breathing difficulties. Other symptoms may include tremors, cramps, and fasciculations (muscle twitching).

Causes

Kennedy's Disease is caused by a mutation in the androgen receptor (AR) gene. This gene provides instructions for making a protein that allows the body to respond appropriately to dihydrotestosterone and other androgens. In people with Kennedy's Disease, the mutated AR gene has an excessive number of CAG repeats, which leads to the production of a faulty androgen receptor.

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. Medications may be used to manage symptoms such as muscle cramps and difficulties with swallowing.

Related Terms

• Neurodegenerative disorders
• Muscular atrophy
• Androgen receptor
• X-linked recessive inheritance

External links

• Medical encyclopedia article on Kennedy
• Wikipedia's article - Kennedy

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