What is Huntington's 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.
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.
John was a major part of clinical study programs at UCLA. His major concern and hope was to help with the advancement of finding a cure for Huntington's Disease (HD). Although he was not able to live to see the cure, all of his efforts will help the future of his children and countless others facing horrific neurodegenerative diseases.
Huntington's Disease has some similarities with Parkinson's Disease and Alzheimer's Disease as well as other neurodegenerative disorders. HD is unique, however, in that the gene that causes the disease has been identified. This makes research on HD even more important in the field of neurological disorders as genetic medicine becomes more and more of a reality. Developing better treatments and finding a cure for HD will be vital for improving treatments and curing Parkinsons' and Alzheimer's disease.