Huntington Chronic Progressive Hereditary Chorea, often referred to as Huntington's disease (HD), is a genetic and neurodegenerative disorder that affects the central nervous system. It is characterized by involuntary movements, cognitive decline, and psychiatric symptoms. This condition is typically inherited in an autosomal dominant manner, meaning an affected individual has a 50% chance of passing the condition on to their offspring.
The primary manifestation of HD is chorea, which refers to jerky and uncontrolled movements that may affect the limbs, face, and other parts of the body. These movements tend to worsen over time and can result in a significant loss of coordination and balance. Additionally, individuals with HD often experience changes in mood and behavior, including depression, irritability, and apathy. Cognitive impairment is another hallmark feature of HD, leading to difficulties in concentration, memory, and decision-making.
The onset of symptoms in HD varies between individuals, typically occurring in adulthood but occasionally appearing in childhood or late adulthood. As the disease progresses, individuals may also develop difficulty in swallowing, speaking, and breathing. Unfortunately, there is currently no cure for HD, and treatment primarily focuses on managing symptoms and providing support to patients and their families.
Genetic testing can confirm the presence of the mutated huntingtin gene, which leads to the production of an abnormal protein responsible for the development of HD. This knowledge not only allows for proper diagnosis but also enables genetic counseling and family planning for individuals at risk of inheriting the disease.
