Huntington's Disease: Understanding the Genetic Disorder
Huntington's disease is a genetic disorder that causes brain damage. It occurs when one or both of a person's parents carry a faulty gene, called the huntingtin (HTT) gene. Children of parents with a HD gene have a 50% chance of inheriting it.
Treatment and Support for Huntington's Disease
There is no cure for Huntington's disease, nor any way to stop it from getting worse. But treatment and support can help reduce some of the symptoms.
Diagnosing Huntington's Disease
Family history plays a major role in diagnosing Huntington's disease. If you or your doctor think you may have the condition, a neurologist will do a physical exam and look for signs of twitches, jerking movements, or problems with balance, reflexes, and coordination.
Your doctor can do an electroencephalogram, which is a test that measures the electrical activity in your brain. This test will show if you have seizures and can also help your doctor find the cause of them.
A neurologist will ask you and your family about any other diseases or conditions that you have, or have had. If they suspect Huntington's, they will refer you to a neurologist who specializes in the condition.
The neurologist will do a physical examination, asking you questions about your movement and looking for twitches, jerking, and problems with balance, reflexes, and coordination. They will also take a medical history and perform a genetic analysis.
Genetic Testing for Huntington's Disease
In order to diagnose Huntington's disease, your neurologist will look for changes in the DNA that creates the HTT protein. This gene normally creates proteins of 35 CAG repeats, but a person with Huntington's may have as many as 120 CAG repeats. People who have more than 40 repeats almost always develop the disease.
If you have a history of twitches, jerking, or other abnormal movements, or have family members who have the disease, you can get a blood test to check for a mutation on your HTT gene. Your healthcare provider will draw your blood and send it to a lab.
After the lab has finished testing your DNA, they will give you results. A genetic counselor will review the information with you and provide recommendations for treatment.
Treatment Options for Huntington's Disease
Treatments for Huntington's disease include medications that can reduce some of the symptoms. These include antidepressants, mood stabilizers, and drugs to control fidgety movements.
Behavioral and cognitive therapies can help people with Huntington's cope with the mental and emotional effects of the disease. These treatments can improve communication, social skills, and learning abilities.
These therapies can help you feel more independent and less dependent on others. They also can help you enjoy life more.
Other treatment options can include specialized eating and drinking utensils, handrails in the home, and devices that help you shower or dress. Occupational therapy can also be helpful.
Life Expectancy and Complications of Huntington's Disease
Most people who have HD live about 10 to 20 years after they are diagnosed with the disease. Some people can live longer than that, but others can die from complications related to the disease, such as congestive heart failure and pneumonia.
