What is Huntington's Disease?
Huntington's disease (HD) is a progressive genetic disorder that causes the breakdown of nerve cells in the brain. This inherited condition leads to deterioration of both physical and mental abilities over time.
Causes and Inheritance
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Genetic Mutation: HD is caused by a mutation in the HTT gene
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Inheritance Pattern: Autosomal dominant (only one copy of the mutated gene is needed)
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50% Risk: Children of affected parents have a 50% chance of inheriting the condition
Main Symptoms
Physical Symptoms
- Involuntary jerking or writhing movements (chorea)
- Muscle problems, including rigidity and contractures
- Slow or abnormal eye movements
- Impaired gait, balance, and coordination
Cognitive Symptoms
- Difficulty organizing, prioritizing, or focusing
- Lack of flexibility or impulse control
- Problems with short-term memory
- Difficulty learning new information
Emotional Symptoms
- Depression
- Anxiety
- Social withdrawal
- Mood swings
Diagnosis
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Genetic Testing: DNA analysis to confirm HTT gene mutation
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Family History: Review of family medical history
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Neurological Examination: Assessment of motor skills, reflexes, and mental status
Treatment Options
Medication
- Tetrabenazine for movement control
- Antidepressants for emotional symptoms
- Anti-anxiety medications as needed
Supportive Care
- Physical therapy
- Occupational therapy
- Speech therapy
- Nutritional support
Living with Huntington's Disease
- Regular medical check-ups
- Support group participation
- Lifestyle modifications
- Family planning considerations
Research and Future Prospects
- Ongoing clinical trials
- Gene therapy research
- New treatment approaches under investigation