by Darian Peters

Created on: February 14, 2011

There are various rare diseases that can befall humans and that, unfortunately, don’t get the attention that they deserve or the resources to deal with them effectively. Kennedy’s disease is an example of this. It is a genetically caused disease that gives rise to neuromuscular problems. It is related to a number of other conditions such as Huntington’s disease and androgen insensitivity syndrome. Currently there is no cure available for treatment of Kennedy’s disease and better treatment too, must be developed.

The genetic cause of Kennedy’s disease is a mutation on the X chromosome, one of the sex chromosomes, that affects the androgen receptor gene. Because males have only one X (and one Y) sex chromosome if the disease is in them it will be fully expressed. A female would need a double dose, on both her X chromosomes for this to happen. So in females the symptoms are typically a lot milder and may not be present at all. The disease typically develops slowly and is most likely to become apparent when the person is in middle age.

The first type of symptoms to be considered in cases of Kennedy’s disease are those involving endocrine related problems. This can involve problems with the sexual areas and fertility. One possible symptom is a low sperm count whilst impotence, erectile problems, and even testicular atrophy can all occur. Breasts can also become enlarged in a symptom known as gynecomastia.  

Another type of symptom seen in Kennedy’s disease are neurological ones. Indeed the bulbar problems caused by the disease give rise to the alternative name of the disease, Spinal Bulbar Muscular Atrophy. The motor neurons that control things like swallowing, speech, and breathing break down and lead to a lack of control over these areas of behaviour. As this problem takes hold there is a further danger, in that the person will become increasingly susceptible to pneumonia because of the increasing difficulty in removing phlegm from the lungs. Other neurological symptoms can include hand tremor, numbness, and impaired deep tendon reflexes.

A third type of Kennedy’s disease symptoms are muscular problems. One example of this is that muscles will touch whilst the person is at rest, a phenomenon known as fasciculation. There can also be the large muscle spasms known as cramps. Finally, there can be a significant loss of muscle mass. This muscular atrophy is caused because the lower motor neurons are failing to provide enough stimulation to the muscles.

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