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What Is Kennedy's Disease?

Genetic testing is the only way to confirm a diagnosis of Kennedy's Disease.
In later stages of Kennedy's disease, a patient may become wheelchair-bound.
Kennedy's disease directly affects the motor neurons of the brain.
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  • Written By: Jacob Queen
  • Edited By: Lauren Fritsky
  • Last Modified Date: 15 August 2014
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Kennedy's disease is a genetic disorder that directly affects the motor neurons. People are born with the condition, but they don't actually develop symptoms until they reach middle age or older. The condition causes muscle weakness along with other serious neurological symptoms, and it worsens over time. The disease mostly affects men, but women can suffer from a milder version of the disorder, and they are also carriers.

The symptoms of Kennedy's disease tend to progress very slowly. At first, people may have shaking in their hands or muscle cramps. Eventually, extreme muscle weakness will develop, especially in the limbs. Speech-related muscles can also begin to suffer, leading to slurring of words. The swallowing reflex can also be affected, and people sometimes end up swallowing food the wrong way and get particles in their lungs, which can lead to pneumonia.

Approximately one out of every 40,000 people is affected by Kennedy's disease. It is caused by a genetic problem related directly to the female X chromosome. Men only have one X chromosome, while women have two. This means that women can carry the disease on one of their chromosomes, while the other one helps keep the symptoms from being noticeable. If a man has the defect, it will manifest with symptoms that are more obvious.

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The disease is passed on by mothers exclusively. Any woman who carries the disorder has a 50% chance of passing it on to her children. Many doctors recommend genetic counseling when it comes to having children for people who have a high risk for Kennedy's disease.

Misdiagnoses of the disorder is relatively frequent because it has many similar symptoms to other muscular conditions. The only way to absolutely confirm the diagnosis of Kennedy’s disease is through genetic testing. There is no actual treatment for the disease, although research is underway and doctors are especially excited about possible genetic techniques. Some patients may benefit from physical therapy, which can help keep their muscles from atrophying as rapidly. It is also common for patients to receive speech therapy, and overall, there is a general focus on teaching individuals to adapt to the life changes they will experience.

In the later stages of Kennedy's disease, some patients may become wheelchair-bound, and they may also need help eating their food. In the long term, Kennedy’s disease is not actually fatal, but it can greatly affect a person's quality of living. It normally takes a very long time for the disease to reach the more severe stages, and because of this, many patients with the most severe dysfunction are senior citizens.

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ysmina
Post 3

This disease sounds like another motor neuron disease called amyotrophic lateral sclerosis (AlS). I have a cousin who has this. It's also caused by a degeneration of neurons and has the same symptoms like muscle atrophy and weakness.

I think the main difference between Kennedy's disease and ALS is that ALS is not as rare as Kennedy's. I'm sure the gene that carries them is different too although I don't know specifically.

Anyone know what other differences there are between these nervous system diseases?

fify
Post 2

@simrin-- Yes, my husband was diagnosed with it last month. He had the genetic testing done and didn't pay anything, his insurance covered it. I think most insurances do cover it, I know Medicare does too.

My husband is also around your age and has similar symptoms. The symptom that bothers him the most is the tremors. What made us go to the hospital in the first place though was a terrible choking episode he had during a meal.

The doctor did a videofluoroscopic swallowing study (VFSS) and saw that he had an issue with his swallowing reflex. He then had the genetic testing done which diagnosed it.

SteamLouis
Post 1

My neurologist suspects that I have Kennedy's disease and wants me to get genetic testing done to confirm.

My symptoms started about nine months ago when I started to feel very weak and would get exhausted so easily. It seems to be getting worse and worse and walking up the stairs or jogging is nearly impossible.

I'm a forty-five year old male and fit the profile for Kennedy's disease, the symptoms match too, all I need is a confirmation.

I definitely want to get the genetic testing but from what I heard it's unbelievably expensive. And I'm not sure if my insurance will cover for it or not. Has anyone had genetic testing for Kennedy's recently? I'd like to learn more about how people are coping with this disease physically and financially.

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