What is Huntington's Disease?
Summary
TLDRHuntington's disease (HD) is a hereditary genetic disorder that leads to the degeneration of nerve cells in the brain, causing physical and mental decline. Named after Dr. George Huntington, it typically affects individuals in their prime working years and is characterized by mood swings, forgetfulness, and involuntary movements. HD is caused by a DNA mutation with a 50/50 inheritance chance. The Huntington's Disease Society of America (HDSA) offers support, education, and advocacy for those affected and their families.
Takeaways
- 𧬠Huntington's disease is an inherited genetic disorder that affects nerve cells in the brain.
- π₯ It leads to a progressive deterioration of physical and mental abilities, usually during a person's prime working years.
- π¨ There is no cure for Huntington's disease, and it is ultimately fatal.
- π¨ββοΈ The disease is named after Dr. George Huntington, who published a detailed account in 1872.
- π§ Symptoms include personality changes, mood swings, anxiety, depression, OCD, forgetfulness, impaired judgment, unsteady gait, and involuntary movements.
- π¬ Huntington's disease is caused by a mutation in the DNA code, specifically an expanded CAG repeat in the Huntington gene.
- πΆ Juvenile Huntington's disease (JHD) affects children and adolescents, and it tends to progress more rapidly than in adults.
- πͺ Each child of a parent with HD has a 50/50 chance of inheriting the faulty gene.
- π The Huntington's Disease Society of America (HDSA) is a leading organization providing support and resources for those affected by HD.
- π’ HDSA offers a wide range of services including community support, education, advocacy, research funding, and local events.
Q & A
What is Huntington's disease?
-Huntington's disease is an inherited genetic disorder that causes the progressive breakdown of nerve cells in the brain, leading to the deterioration of a person's physical and mental abilities. It is ultimately fatal and has no cure.
Who was Huntington's disease named after?
-Huntington's disease is named after Dr. George Huntington, a physician from Long Island, New York, who published a famous account of the disease in 1872.
What are the common symptoms of Huntington's disease?
-Common symptoms include personality changes, mood swings, anxiety, depression, OCD, forgetfulness, impaired judgment, unsteady gait, involuntary movements (known as chorea), slurred speech, and difficulty swallowing.
At what age do Huntington's disease symptoms usually begin?
-Symptoms of Huntington's disease usually begin between the ages of 30 and 50, though about 10% of cases occur in children and adolescents, a form known as juvenile Huntington's disease.
What causes Huntington's disease?
-Huntington's disease is caused by a genetic mutation involving an expanded repeat of the CAG nucleotide sequence in the Huntington gene. When this CAG repeat occurs 40 times or more, it leads to Huntington's disease.
How does the Huntington gene mutation affect the brain?
-The expanded Huntington gene is toxic to nerve cells, particularly in the striatum, a part of the brain important for mood, motivation, and movement. As these cells become damaged and die, Huntington's disease symptoms develop and worsen.
What is the risk of inheriting Huntington's disease if a parent has the condition?
-Every child of a parent with Huntington's disease has a 50/50 chance of inheriting the faulty gene that causes the condition.
What is the Huntington's Disease Society of America (HDSA)?
-The Huntington's Disease Society of America (HDSA) is a not-for-profit organization dedicated to improving the lives of those affected by Huntington's disease through community services, education, advocacy, and research.
What contributions did the Guthrie family make to the fight against Huntington's disease?
-The HDSA was founded in 1967 by Marjorie Guthrie, wife of folk singer Woody Guthrie, who died from Huntington's disease. The Guthrie family's legacy continues to play a significant role in HDSA's efforts to support and advocate for those affected by the disease.
What resources does the Huntington's Disease Society of America provide?
-HDSA offers various resources, including volunteer-led chapters, research funding, Centers of Excellence, trial finders, social workers, support groups, local education programs, advocacy, and disability support.
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