Huntingtons Disease Diagnosis

Huntington’s disease (also known as Huntington’s chorea, chorea major or HD) is an inherited neurological disorder caused by the inheritance of a specific genetic code.

How Huntington’s Disease is Diagnosed

Because Huntington’s disease is known to be caused by a single, causal gene, a genetic test is available for the disease. If an individual is displaying the characteristic physical symptoms, a pre-symptomatic DNA blood test is usually performed. This DNA test counts the number of thee DNA bases repeated multiple times in a gene. The test measures the number of repeats of cytosine, adenine, and guanine (CAG) within a genetic code.

A person who doesn’t have Huntington’s disease has twenty-eight or fewer repeats of the genetic code. Doctors of patients whose results fall within twenty-eight to forty repeats typically request extensive neurological examinations. A patient who has more than forty repeats will most likely be diagnosed with Huntington’s disease; the more repeats, the greater the likelihood of displaying symptoms at an earlier age.

A negative test result indicates that a person does not carry the gene known to cause Huntington’s disease. A positive test result in an individual without symptoms is not considered to be a diagnosis.

Even with a positive test result, symptoms might not be displayed for years or decades. Asymptomatic people who elect pre-symptomatic testing should undergo counseling to ensure that they are prepared to deal with the results. After a positive test result, a neurologist may schedule computed tomography (CT) scans to look for changes within the patient’s brain.

Cures and Treatments

Patients diagnosed with HD are naturally inclined to ask, “Is there a cure or treatment for Huntington’s disease?” Unfortunately, Huntington’s is a disease with no available treatment and no known cure.

However, passionate researchers have discovered treatments that improve the quality of life for those living with the disease. Treatments for Huntington’s disease ease the effects of symptoms and delay the progression of the disease.

Although Huntington’s disease is not fatal, the side effects tend to shorten a patient’s life expectancy. One of the most common causes of death for patients with the disease is pneumonia, when the disease has progressed to a point where a patient has become bedridden.

Available Treatment for Huntington’s Disease

Treatment for Huntington’s disease varies largely depending on what symptoms are present. A doctor may prescribe drugs to ease symptoms such as uncontrollable movements, hallucinations, delusions, depression, manic behavior and mood swings.

The goal of Huntington’s disease treatment in the early stages of the disease is to help a person function comfortably as long as possible. For some patients, speech therapy has been found to be an effective treatment.

Nutrition Management for Huntington’s Disease

Nutrition management is very important for people with the disease. Patients with Huntington’s Disease may need to consume more calories to maintain their body weight than those without the disease. Because patients often have dysphagia, or difficulty swallowing, a doctor may recommend a diet of soft, blended foods. Your doctor may have you consult a specialist who is well versed in the mechanics of swallowing, such as a speech language pathologist. A nutritionist can help you find foods that are easy to swallow safe to eat.

The Future of Huntington’s Disease

In the last few decades, research on Huntington’s disease has yielded new information. Clinical trials have proven that the earlier a treatment can be introduced, the longer a patient can function comfortably.

Huntington’s disease researchers study:

  • stem cell research related to Huntington’s disease
  • the effect of Huntington’s Disease on the human brain
  • the effect of Huntington’s disease on the immune system
  • the genetics of Huntington’s disease.

Resources

Davis, R. (1997). Nutrition for people with Huntington’s disease. Retrieved December 16, 2008, from the University of Chicago Web site: http://www2.lib.uchicago.edu/~rd13/hd/nutritn.html.

Pagewise, Inc. (n.d.). Huntington’s disease. Retrieved December 16, 2008, from the Essortment Web site: http://www.essortment.com/all/huntingtondisea_rkhm.htm.

Searle, J. (n.d.). Eating and swallowing. Retrieved December 16, 2008, from the Kansas University Medical Center Web site: http://www.kumc.edu/hospital/huntingtons/swallowing.html.