Health & Medicine

Huntington’s disease is a fatal genetic disease that affects all ages

Nicole Everman, MD, KentuckyOne Health Neurology Associates
Nicole Everman, MD, KentuckyOne Health Neurology Associates

For many people, it’s not uncommon to experience anxiety or depression at some point in their lives. However, when a person is also experiencing other issues, such as being fidgety or restless, irritable with friends and family, or displaying a jerky, uncoordinated movement with their body (chorea), it may be a bigger issue known as Huntington’s disease — a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain that is caused by a defect in an inherited gene.

Currently in the United States, there are approximately 30,000 people living with Huntington’s disease, and more than 200,000 are at risk of developing the disease. Those who have a parent with the disease have a 50 percent chance of inheriting the condition, and symptoms for the disease often appear between the ages of 30 to 50. While symptoms vary from person to person, there are typically three stages most people experience during Huntington’s disease.

The early stage of Huntington’s disease typically includes depression, irritability, involuntary movements of the body and subtle changes in coordination. As the disease progresses to the middle stage, the patient often experiences additional movement disorders, diminished speech and difficulty swallowing. The symptoms are also similar to having Parkinson’s disease, Alzheimer’s disease and amyotrophic lateral sclerosis (ALS) simultaneously.

By the late stage of Huntington’s disease, the patient loses mobility and speech and becomes dependent on others to care for them. During this stage in the disease, many will die as a result of choking, pneumonia and other infections, or injuries related to falls. The time from the disease onset to death is often between 10 to 30 years.

An estimated 10 percent of Huntington’s disease cases include those under the age of 20. This is known as juvenile Huntington’s disease and symptoms may include stiff or awkward walking, increased clumsiness, changes in speech, tremors or seizures. Juvenile onset often results in death within 10 years.

While there is currently no cure or treatment for Huntington’s disease, there are medications that can help manage symptoms of the disease. Recently, the U.S. Food and Drug Administration approved deutetrabenazine tablets that will help treat chorea.

Those experiencing symptoms of Huntington’s disease will be referred to a neurologist, who will conduct a neurological and psychiatric exam, and review a patient’s family medical history to help diagnose whether they may have this inherited disease.

The physician might also order an MRI or CT scan, which will help reveal structural changes in parts of the brain that may be affected by the disease. These tests can rule out other conditions that could be affecting the patient. In cases where the disease is suspected, genetic testing will help confirm the diagnosis. This test can be helpful if there is no family history of the disease, or if another member of your family has Huntington’s disease.

If you have a family member who has Huntington’s disease, or are showing symptoms yourself, contact your physician to inquire about testing. An early diagnosis can help you prepare for the possibility of future complications.

Nicole Everman, MD, KentuckyOne Health Neurology Associates.