Huntington's disease (HD) is a rare, inherited disorder that affects the nervous system. It is caused by a mutation in the HTT gene, which leads to the production of a faulty protein. This protein disrupts the normal function of nerve cells in the brain, causing a wide range of symptoms.
While anyone can inherit the faulty HTT gene, not everyone who inherits it will develop HD. The severity of the disease and the age of onset can vary depending on the number of CAG repeats in the gene.
Who is at Risk for Huntington's Disease?
- Individuals with a family history of HD: If a parent, sibling, or other close relative has HD, there is a 50% chance of inheriting the faulty gene.
- Individuals who have been tested and found to have the HTT gene mutation: Genetic testing can confirm whether or not an individual carries the mutation.
Symptoms of Huntington's Disease
Symptoms of HD typically appear between the ages of 30 and 50, but they can manifest earlier or later. Common symptoms include:
- Movement problems: Uncontrolled movements, such as twitching, jerking, or writhing.
- Cognitive decline: Memory loss, difficulty concentrating, and problems with judgment.
- Emotional and behavioral changes: Depression, anxiety, irritability, and aggression.
Diagnosis and Treatment
HD is diagnosed through a combination of clinical evaluation, family history, and genetic testing. There is currently no cure for HD, but there are treatments that can help manage the symptoms.
Resources
- Huntington's Disease Society of America (HDSA): https://hdsa.org/
- National Institute of Neurological Disorders and Stroke (NINDS): https://www.ninds.nih.gov/
