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What is Kennedys Disease

A condition similar to the more well-known Multiple Sclerosis, Kennedy’s Disease is a rare inherited neuromuscular disorder. It is also known as X-linked spinal bulbar muscular atrophy (SBMA).

The disease causes progressive weakening of the muscles, particularly in the arms and legs. In most documented cases, men who inherited the gene with this disease developed the symptoms over time.

Women are primarily carriers of the disease; only in rare cases did they acquire symptoms. Daughters of Kennedy’s Disease patients are also carriers and have a 1 in 2 chance of having a son affected with the disease or a daughter who is a carrier. [National Institute of Neurological Disorders and Stroke]

In individuals afflicted with Kennedy’s Disease, the long nerve cells (motor neurons) that fire to make muscles contract become dysfunctional instead. They eventually die, and the muscles are unable to contract.

In addition to the progressive deterioration of muscle tissue, major symptoms of the disease include severe muscle cramps and problems with speech and swallowing – caused by weakening muscles in the face and throat.

Other symptoms include hand tremors, enlarged calf muscles (due to constant cramping), localized areas of numbness, absent reflexes, and more.

Kennedy’s Disease usually affects adults between the ages of 30 and 50. Earlier onsets have been recorded, however. Evidence shows that the onset of the disease is caused by testosterone binding to an androgen receptor protein. Since men have higher levels of testosterone, men who inherit the KD gene are likely to develop symptoms. [Kennedy’s Disease Association]

The disease can be diagnosed through many different tests. But there are two primary methods used.

A test to check for the serum creatine kinase (CPK) in the blood is one. People with Kennedy’s Disease are known to have a higher amount of the CPK enzyme.

Genetic tests using a blood sample can also be utilized. Such tests can determine if the KD gene is present – no matter if the person has symptoms of the disease or is a carrier. [Better Health Channel – Australia]

Despite the tests that are available, the fact that the disease is rare can often lead to misdiagnosis. It is estimated that 1 in 40,000 individuals worldwide have Kennedy’s Disease, yet many of them go undiagnosed or misdiagnosed for years. [Kennedy’s Disease Associaton]

According to medical professionals it is often mistaken for Lou Gehrig’s Disease (ALS). Another common misdiagnosis is Motor Neuron Disease, a more common disease of the progressive nervous system in which neurons are broken down in the spinal cord and brain.

Since no method for regenerating muscle neurons has been developed as of this writing, there is no cure for Kennedy’s disease. As a result, treatments are aimed at easing the impact/effect of some of the symptoms.

Treatment options include medications to reduce muscle cramps and tremors, pain management and speech and occupational therapy.

A combination of regular rest to avoid exhaustion; a healthy, balanced diet; gentle and regular aerobic exercise; and regular stretching will help individuals dealing with the disease as well.

Even as the treatment takes place, the severity and progression of the illness should be monitored, according to Paul E. Barkhaus, MD, Director of Neuromuscular Diseases at the Milwaukee Veterans Administration Medical Center.

“Despite what appears to be ongoing, slowly progressive weakness, assessing the patient’s strength and tolerance to exertion, along with any compromise in activities of daily living or occupation, is important,” Dr. Barkhaus explained.

He says the results of that assessment will result in proactive management to minimize the patient’s risk for falls, improve his or her mobility, and to provide the necessary supportive devices as the patient’s disability increases. [eMedicine]

Leaders of the Kennedy’s Disease Association developed the motto “Kennedy’s Disease Knows No Boundaries…” in an effort to help educate people about their cause.

The disease is passed on from generation to generation in families around the world. That’s why members of the KDA continue to try and inform the people around them about the disease and what it will take to develop a cure.