Huntington’s disease is a rare, inherited neurodegenerative condition that slowly and permanently robs a person’s physical and mental health. As the disease progresses, some of the physical symptoms can include involuntary movements like jerking and twisting. What’s more, friends and family may notice subtle mood changes, like increased irritability or apathy, when the disorder first begins to reveal itself. Every patient will experience the disease individually; some might even have drastic personality changes and become violent or paranoid, which can be frightening for the patient and loved ones to witness and live through.
Researchers know that Huntington’s disease is caused by mutations in a single gene (called HTT) that interferes with the body’s ability to produce a protein called huntingtin. (While scientists are unsure of huntingtin’s purpose, it is found in nerve cells [neurons] in the brain and appears to build up inside neurons, causing them to die or malfunction.) There is no cure for Huntington’s disease, and researchers haven’t yet found a way to stop the disease from progressing. However, certain medications can ease some symptoms.
Even though the genetic mutation is present at birth, symptoms do not typically appear until around age 40 (though they can start emerging a decade earlier or later). In extremely rare cases of juvenile Huntington’s disease, the disease begins causing problems during childhood or teenage years. People with Huntington’s disease live between 10 to 30 years after its initial onset and usually die from complications of infections, like pneumonia, or injuries related to falling.
More than 30,000 people in the U.S. have Huntington’s disease, according to the National Institute of Neurological Disorders and Stroke (NINDS).
At Yale Medicine, a team of neurologists and other specialists work together to provide a personalized treatment plan that addresses the particular symptoms a patient with the disease might have.