Halting Huntington’s Disease

You have trouble swallowing and saying words. Your balance is off and your posture is poor. You have muscle problems like being too rigid. You may have Huntington’s disease.

Huntington’s disease is a rare, inherited disease that causes breakdown of the nerve cells in your brain. The condition is uncommon. The disease occurs in about one of every 10,000 to 20,000 people. Symptoms appear in midlife or later.

Its rapid, involuntary movement of the face, upper body, arms and legs is characteristic of the disease. In the early stages, the movements are mild and often go unnoticed. As the illness progresses, they are extreme. Involvement of the breathing muscle, the diaphragm, makes breathing difficult. When the throat muscles are affected, swallowing is a problem. The ability to speak is compromised. Dementia and psychiatric problems often appear in advanced stages of the illness.

Perhaps the most notable symptom is chorea, the Greek word for dance, used to describe involuntary jerking and writhing movements. What makes chorea such an insidious illness is the fact that symptoms don’t surface until later in life. By the time that the patient’s illness is recognized, he or she likely has children. Because of that, this condition is passed from one generation to the next.

At first, nothing more than a barely noticeable clumsiness of the hands develops. Or an arm might display fidgety movements. As time progresses, symptoms grow worse. The hands and arms make abnormal uncoordinated jumps and starts. Walking is hesitant and awkward.

Speaking becomes difficult. Swallowing becomes a real challenge. Personality changes occur. A patient might become impulsive or depressed. Memory is feeble. Judgment is impaired. All of these changes result from a single gene, which leads to widespread, premature deterioration of brain cells.

There is no cure for Huntington’s disease. It tends to run in people of European descent. Typically, Huntington’s disease occurs during middle age from 30 to 40.

But symptoms can occur during childhood with juvenile Huntington’s disease. In addition to the symptoms of adult disease, signs in children can include seizures and stiffness. Children with juvenile Huntington’s disease inherit the condition from their fathers.

Anyone that inherits the gene for Huntington’s disease will eventually have symptoms of the disease. The exact age for the onset of symptoms varies.

Huntington’s disease happens when misshapen proteins destroy neurons (brain cells). They attack the basal ganglia, an area in the brain that oversees the body movements you control. The disease also affects the brain’s cortex (surface of the brain). This part of the brain helps with thinking, decision-making and memory.

In order to be diagnosed with Huntington’s disease, a neurologist will start by conducting a physical exam. He/she may perform other tests to rule out other conditions such as a blood test, genetic testing, and imaging tests such as magnetic resonance imaging (MRI) and computed tomography (CT) scan.

If one of your parents or a sibling has Huntington’s disease, there is a high probability of you having the disease. Predictive genetic testing which is testing for genetic diseases before symptoms occur—can tell you whether or not you have the gene mutation.

There is no medicine that treats Huntington’s disease but there is medicine for the individual symptoms of the disease such as uncontrolled muscle contractions and psychiatric problems. Antidepressants can clear the depression that is common with the illness.

To control chorea, tetrabenazine (Xenazine), deutetrabenazine (Austedo) and haloperidol (Haldol) may be prescribed by your doctor.

There is no way to prevent Huntington’s disease or slow its progression. Everyday activities will become harder to do as the illness progresses. Huntington’s disease is not fatal but you can die from complications like pneumonia or injuries related to falls.

You can make choices that will better your quality of life such as exercising, eating a healthy diet, drinking water, finding a support group, researching care facilities and appointing an advisor.

You may be unable to stop Huntington’s disease but you can plan for it accordingly. Symptoms may take years to worsen. Use that time to form a support system that you can rely on. Speak to your health care provider regarding genetic counselling if you have a family member with Huntington’s disease.