FAQs about Kennedy's disease

Category: Kennedys disease

Kennedy’s disease is caused by mutations in the AR gene, located on the X chromosome, and is more common in men than women, with symptoms usually starting between ages 20 and 40. The disease’s hallmark is progressive weakness and atrophy of the muscles closer to the trunk and those of the mouth and throat. This form of spinal muscular atrophy can cause difficulty breathing, but most patients have a normal life expectancy.

Category: Kennedys disease

It is rare for a woman to show symptoms of Kennedy’s disease, however, women can be carriers of the gene mutation that causes the disease and pass it onto their children.

Category: Kennedys disease

At this point in time, there is no cure for Kennedy’s disease. Treatment is supportive in order to maintain quality of life.

Category: Kennedys disease

Doctors will perform a physical exam followed by blood tests. These blood tests look for elevated levels of creatine kinase, as people with Kennedy’s disease often have elevated levels of this enzyme, and to detect the CAG triplet repeat expansion in the AR gene. In general, Kennedy’s disease is associated with more than 38 CAG repeats present in the AR gene. The CAG triplet repeat test can diagnose both affected men and women who are carriers.

Category: Kennedys disease

Yes, adult men can develop Kennedy’s disease, usually between the ages of 20 and 40 or later. Women can be carriers of the genetic mutation that causes the disease, but usually do not develop symptoms.