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home : columns : ask the doctors June 25, 2021

4/23/2021 7:37:00 AM
Huntington's disease is progressive, and inherited

Dear Doctor: My husband was recently diagnosed with Huntington's chorea. Is this the same thing as Huntington's disease? We would like to know what we can expect in the future with this condition. Are there any new treatments yet? What does this mean for our children?

Dear Reader: Yes, Huntington's chorea and Huntington's disease refer to the same condition. It's a neurological disease in which ongoing damage to nerve cells in the brain leads to the steady deterioration of the individual's motor skills, speech and memory. The changes that occur in the brain can also affect emotions, judgment and cognition.

Huntington's disease is an inherited condition. It's caused by a faulty gene that produces an abnormally long segment of a protein that is essential to brain function. These elongated segments get cut into smaller fragments that cluster together and accumulate on nerve cells in certain regions of the brain. This leads to a gradual and ongoing disruption of brain function.

Huntington's is a progressive disease. Once the symptoms appear, they continue and worsen over time. In most cases, they become noticeable between the ages of 30 and 50 and typically begin gradually. Although their onset and progression can vary from person to person, they fall into three basic categories. Changes to movement can include increasing clumsiness; difficulty with posture, balance and gait, involuntary muscle spasms that result in jerky movement, abnormally slow eye movement, and difficulty with speaking or swallowing. Cognitive changes can include difficulty concentrating, increasing forgetfulness, memory lapses, and difficulty with logic and reasoning. The disease can also take a toll on an individual's emotions and their personality. Some patients find that they begin to experience sudden mood swings, irritability or anger, frustration, anxiety and depression.

As the symptoms manifest and become more severe, the person eventually becomes unable to work or to manage the tasks of daily life. Someone with advanced disease will require full-time care. Because of the loss of motor function, people with advanced Huntington's disease become susceptible to pneumonia, which is one of the primary causes of death in these patients.

Unfortunately, at this time there is no cure or treatment for the disease. Instead, a range of medications are used to manage the physical and emotional symptoms, as well as therapies to help the patient deal with them.

The children of someone who develops Huntington's disease have a 50% chance of having inherited the mutated gene, and thus developing the condition. People with a history of the disease in their family can choose to meet with a genetic counselor to discuss whether they want to be tested for the presence of the mutation that causes the disease. It's a difficult and deeply personal decision. Some children of Huntington's patients choose not to know. Others, who plan to have families or want time to prepare should they test positive, decide to move forward.

For more information about all aspects of the disease, as well as support and advocacy, visit the Huntington Disease Society of America, at hdsa.org. It's a very good resource for patients and their families.

Eve Glazier, M.D., MBA, is an internist and associate professor of medicine at UCLA Health. Elizabeth Ko, M.D., is an internist and assistant professor of medicine at UCLA Health. Send your questions to askthedoctors@mednet.ucla.edu, or write: Ask the Doctors, c/o UCLA Health Sciences Media Relations, 10880 Wilshire Blvd., Suite 1450, Los Angeles, CA, 90024. Owing to the volume of mail, personal replies cannot be provided.





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