Podcast
Questions and Answers
What generally triggers the symptoms of Huntington's disease to appear?
What generally triggers the symptoms of Huntington's disease to appear?
- During teenage years
- Ages 30-40 (correct)
- At birth
- After age 50
Which of the following is a common physical effect of Huntington's disease?
Which of the following is a common physical effect of Huntington's disease?
- Controlled hand movements
- Enhanced muscle strength
- Uncontrolled movements (correct)
- Increased flexibility
What is the genetic mutation associated with Huntington's disease?
What is the genetic mutation associated with Huntington's disease?
- CAG (correct)
- ATA
- CDG
- GTA
Which factor notably contributes to the risk of inheriting Huntington's disease?
Which factor notably contributes to the risk of inheriting Huntington's disease?
What type of evaluation is used to diagnose Huntington's disease?
What type of evaluation is used to diagnose Huntington's disease?
Flashcards
What is Huntington's Disease?
What is Huntington's Disease?
Huntington's disease is a genetic disorder that affects the brain, causing problems with movement, thinking, and behavior.
When do Huntington's Disease symptoms show?
When do Huntington's Disease symptoms show?
The symptoms of Huntington's disease usually appear in middle age, between 30 and 40 years old. Before that, the gene is often dormant.
What causes Huntington's Disease?
What causes Huntington's Disease?
The cause of Huntington's disease is a mutation in a gene called Huntington that leads to the overproduction of a harmful protein.
How is Huntington's Disease inherited?
How is Huntington's Disease inherited?
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What are the physical effects of Huntington's Disease?
What are the physical effects of Huntington's Disease?
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Study Notes
Huntington's Disease
- Incurable, hereditary brain disorder
- Characterized by degeneration of brain cells
- Affects motor functions, thinking ability, and behavior
- Impacts approximately 1 in 10,000 people
- Symptoms typically appear between ages 30-40, but can sometimes remain dormant longer
- Affects males and females equally
- Genetic mutation (CAG) over-production in the genetic sequence.
- A 50/50 chance of inheriting the HD gene from one parent.
Physical Effects
- Movement: Jerky, uncontrolled movements, slow eye movements, difficulty with speech and swallowing, cognitive issues, repetitive thoughts, focusing issues.
Psychiatric Effects
- Mental Health: Depression, aggression, anxiety, sadness, and increased suicide/alcoholism risk.
Cognitive Effects
- Difficulty with information processing
- Organization problems
- Disorientation
- Problems with concentration and memory
Diagnosis and Treatment
- Diagnosis: Physical and psychological evaluations to determine symptom onset. Rating scales assess motor and cognitive/behavioral function.
- Treatment: Currently incurable, but some medications can help lessen symptoms.
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