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Huntington’s Disease

Huntington’s disease is a progressive brain disorder caused by a single defective gene on chromosome 4 — one of the 23 human chromosomes that carry a person’s entire genetic code.

This defect is “dominant,” meaning that anyone who inherits it from a parent with Huntington’s will eventually develop the disease.

Huntington’s disease (HD) is a brain disease that is passed down in families from generation to generation. It is caused by a mistake in the DNA instructions that build our bodies and keep them running. DNA is made up of thousands of genes, and people with HD have a small error in one gene, called huntingtin. Over time this error causes damage to the brain and leads to HD symptoms.

HD causes deterioration in a person’s physical, mental, and emotional abilities, usually during their prime working years, and currently has no cure. Most people start developing symptoms during adulthood, between the ages of 30 to 50, but HD can also occur in children and young adults (known as juvenile HD or JHD). HD is known as a family disease because every child of a parent with HD has a 50/50 chance of inheriting the faulty gene. Today, there are approximately 41,000 symptomatic Americans and more than 200,000 at-risk of inheriting the disease.

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Symptoms of Huntington’s disease usually develop between ages 30 and 50, but they can appear as early as age 2 or as late as 80. The hallmark symptom of Huntington’s disease is the uncontrolled movement of the arms, legs, head, face, and upper body. Huntington’s disease also causes a decline in thinking and reasoning skills, including memory, concentration, judgment, and ability to plan and organize.

Huntington’s disease brain changes lead to alterations in mood, especially depression, anxiety, and uncharacteristic anger and irritability. Another common symptom is obsessive-compulsive behavior, leading a person to repeat the same question or activity over and over.

For more information please visit: Huntington’s Disease Society of America

The symptoms of HD can vary a lot from person to person, but they usually include:

  • Personality changes, mood swings & depression
  • Forgetfulness & impaired judgment
  • Unsteady gait & involuntary movements (chorea)
  • Slurred speech, difficulty in swallowing & significant weight loss

Most people with HD experience problems with thinking, behavior, and movements. Symptoms usually worsen over the course of 10 to 25 years and affect the ability to reason, walk, and talk. Early on, a person with HD or their friends and family may notice difficulties with planning, remembering, and staying on task. They may develop mood changes like depression, anxiety, irritability, and anger. Most people with HD become “fidgety” and develop movements of the face and limbs known as chorea, which they are not able to control.

Because of the uncontrolled movements (chorea), a person with HD may lose a lot of weight without intending to, and may have trouble walking, balancing, and moving around safely. They will eventually lose the ability to work, drive, and manage tasks at home, and may qualify for disability benefits. Over time, the individual will develop difficulty with speaking and swallowing, and their movements will become slow and stiff. People with advanced HD need full-time care to help with their day-to-day activities, and they ultimately succumb to pneumonia, heart failure or other complications. The symptoms of HD are sometimes described as having ALS, Parkinson’s and Alzheimer’s – simultaneously.

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