Huntington’s Disease (HD) is an inherited illness that causes certain nerve cells in the brain to become damaged, leading to a gradual breakdown in cognitive, behavioral, and physical functioning. It is a chronic, progressive, fatal neurological disorder that affects an estimated 30,000 Americans, though experts believe this number could be much higher.
HD is caused by a gene defect on Chromosome 4, which encodes a protein called Huntingtin. This gene defect causes a gradual build-up of an abnormal protein in certain areas of the brain, leading to the death of nerve cells. Symptoms usually appear in adulthood, but can occur at any age. Early signs can include changes in mood and personality, unsteadiness and clumsiness, and memory and concentration problems. Late stage symptoms include difficulty with walking, swallowing and speaking, as well as severe dementia.
Treatment for HD is limited and there is no cure, but drugs and procedures can help manage its symptoms. Medications can be used to help control muscle coordination and minimize violent movements. Physical therapy and occupational therapy can help maintain a person’s physical function and ability to perform daily activities. There are also a number of alternative treatments available for people with HD, including relaxation techniques, speech therapy, and supportive counseling.
Research into Huntington’s disease is ongoing and there is hope for a possible cure. Clinical trials are currently underway to test potential treatments and a number of gene therapy approaches are also under investigation. In the meantime, support from family and friends is essential to living with HD. Organizations such as the Huntington’s Disease Society of America provide education, support, and resources for people with HD and their families.
Huntington’s disease can be a difficult and challenging illness to live with, but it does not have to be a death sentence. With early diagnosis, successful treatment, and support, those living with HD can lead happy, productive lives.