Huntington’s Disease: Causes, Symptoms, And Treatments

Huntington’s disease (HD) is a fatal hereditary and progressive brain disorder. Although symptoms may first show up in midlife, Huntington’s can strike anyone from childhood to advanced age. Over 10 to 25 years, the disease gradually kills nerve cells in the brain. This affects the body, mind, and emotions.

Symptoms can vary greatly from person to person. And stress or excitement can worsen symptoms. Some symptoms are easier to spot than others. For example, abnormal movements may be the first thing you notice. Weight loss can be a concern at all stages. In many respects, HD is very similar to Alzheimer’s disease.

 

huntington's disease

 

huntington's disease

 

 

Huntington’s Disease: Causes

In 1993, researchers found the gene that causes Huntington’s. Everyone has the HD gene, but in some families an abnormal copy of the gene gets passed from parent to child. If you have a parent with Huntington’s disease, you have a 50% chance of having the gene and developing the disease.

The facts are:

  • Men and women are equally likely to inherit the abnormal gene.
  • If you don’t have the abnormal gene, you can’t get Huntington’s or pass it on to your children.
  • The disease doesn’t skip generations.

If you or members of your family plan to be tested for Huntington’s, it’s a good idea to get professional genetic counseling first. Counselors can help explain what to expect from the test results.

With knowledge about the HD gene, scientists have been able to learn a great deal about how the disease affects the brain.

 

 

Huntington’s Disease: Stages

In the early stages of HD, you will find these symptoms:

  • Slight changes in coordination, affecting balance or making you more clumsy
  • Fidgety movements that you can’t control
  • Slowing or stiffness
  • Trouble thinking through problems
  • Depression or irritability

 

Middle stage. With time, symptoms begin to interfere more with day-to-day life. For example, the person might start to drop things or to fall. Or have trouble speaking or swallowing.

Staying organized may also be difficult. And emotional changes can put pressure on relationships.

Late stage. In this stage, people with Huntington’s must depend on others for their care. Walking and speaking are not possible. Fidgety movements may become severe.

In children or teens, Huntington’s may progress more quickly and cause symptoms like:

  • Stiff or awkward walking
  • Increased clumsiness
  • Changes in speech
  • Trouble learning new information, or loss of previously learned skills

 

Huntington’s Disease: Treatments

For right now, treating Huntington’s involves managing symptoms, there is no cure:

Medications can help control fidgety movements.

Speech or language therapy may be helpful for any problems with speech or swallowing.

Occupational or physical therapy may help learning how to better control movements. And assistive devices such as handrails can help manage changing physical abilities.

Nutritional support ranges from using special utensils, focusing on nutrient-dense foods, and supplementing with tube feeding in later stages.

Exercise may be very helpful. People with Huntington’s who stay as fit and active as they can seem to do better than those who do not.

Just as important is getting emotional support. Depression often responds well to standard treatments. And basic strategies like breaking tasks into simpler steps can go a long way toward making these changes a bit easier for you and your family.

 

Huntington’s Disease: Latest Research Findings

A new study published earlier this month in Proceedings of the National Academy of Sciences of the United States of America (PNAS), may bring researchers closer to finding a cure for Huntington’s Disease.

The findings may speed the early detection of Huntington’s, Alzheimer’s disease as well as other types of dementia.

New Zealand researchers found high levels of carbamide, also called urea, in the brain tissue of sheep with the Huntington’s disease gene.

Urea is made up of carbon, nitrogen and oxygen. It is found in urine, sweat, blood and milk in mammals. But the most concentrated form is in urine. Urea is extremely toxic and a waste by-product after the body breaks down proteins. The body’s inability to process urea causes a dangerous buildup of toxic ammonia in the brain tissue, which can lead to neurological impairment.

Interestingly, toxic levels of urea also were found in post-mortem human samples that had only minimal cellular brain damage, suggesting the ammonia levels could serve as an early signal of neurodegeneration in living patients. And since Huntington’s disease is linked to a defective gene, doctors could create treatment protocols to lower urea and ammonia or to enhance the body’s ability to metabolize them.

 

There may be a cure yet.

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