Answers for Patients and Families
What Symptoms Might I Experience? (Common Symptoms)
Huntington's disease primarily affects body control, cognitive abilities, and emotional state. Early symptoms are often subtle, such as:
- Physical changes:
- Mild "restlessness" or incoordination (e.g., slight hand tremors).
- Progressing to noticeable "choreiform movements" (uncontrollable arm, leg, or facial tics).
- Later stages may involve muscle stiffness, abasia, or difficulty speaking or swallowing.
- Emotional and cognitive changes (may appear before physical symptoms):
- Depression, anxiety, irritability, or apathy.
- Memory decline, trouble concentrating, or difficulty making decisions.
- Some may experience compulsive behaviors or hallucinations.
- Other issues:
- Weight loss (due to dysphagia or increased metabolic demand).
- Sleep abnormality, reduced energy.
Note: Symptom progression and presentation vary. Juvenile patients may first exhibit slow, rigid movements (similar to Parkinson's disease).
Why Do I Have This Disease? (Causes and Risks)
- Primary cause: Genetic mutation (HTT gene abnormality).
- The faulty gene produces toxic proteins that gradually damage brain cells.
- Mode of inheritance:
- If one parent has the disease, each child has a 50% chance of inheriting it.
- Rare cases (∼10%) occur due to new mutations without family history.
- Higher-risk groups: Individuals with a family history of Huntington's disease should be vigilant.
How Will Doctors Diagnose It? (Diagnostic Methods)
- Clinical evaluation:
- Physical exams (observing movements, coordination) and psychological assessments.
- Genetic testing (key for diagnosis):
- Blood test to measure CAG repeats in the HTT gene (see table below):
| CAG Repeats | Interpretation |
|---|---|
| ≤26 | Normal |
| 27–35 | No disease, but may pass to offspring |
| 36–39 | Possible disease (not 100%) |
| ≥40 | Will develop disease |
- Brain imaging (MRI/CT):
- Helps observe brain changes but is not diagnostic.
Important reminder:
- Always seek genetic counseling before testing to understand implications for you and your family.
- Testing can be done at any age (including pre-pregnancy or during pregnancy).
What Treatments Are Available? (Treatment Options and Principles)
Currently no cure, but these approaches can alleviate symptoms and improve quality of life:
- Managing movement issues:
- Medications like tetrabenazine or deutetrabenazine to reduce involuntary movements.
- Parkinson’s drugs for muscle stiffness (more common in juvenile patients).
- Addressing psychiatric symptoms:
- Antidepressants (e.g., SSRIs) for depression and anxiety.
- Antipsychotics for severe mood swings or hallucinations.
- Multidisciplinary care:
- Neurologists, psychiatrists, and physical therapists collaborate on personalized plans.
Key principle: Regular follow-ups to adjust treatment—never stop medications without consulting your doctor!
Living with the Disease: What Should I Focus On? (Lifestyle and Rehabilitation)
Nutrition and diet:
- Choose easy-to-swallow foods (e.g., soft meals, thick porridge); small, frequent meals to prevent choking. Severe cases may require feeding tubes.
- Monitor weight regularly; consult a dietitian for high-calorie meal plans.
Safety and exercise:
- Physical therapist guidance:
- Balance training to prevent falls; use walkers for safety.
- Customized stretching/strength exercises to maintain muscle function.
- Home modifications: Remove clutter, add non-slip mats in bathrooms.
Mental health support:
- Psychologists or support groups help manage emotional stress.
- Families should watch for suicidal tendencies (higher risk) and seek help promptly.
Long-term care planning:
- Discuss advanced care preferences early (e.g., ventilator use).
- Prepare legal documents (medical power of attorney, wills).
When Should I Seek Immediate Medical Help?
Urgent care is needed for:
- Sudden inability to swallow or frequent choking.
- High fever, dyspnea (possible pneumonia).
- Rapid emotional decline, self-mutilation/suicidal thoughts.
- Seizure or confusion.
Routine check-ups: Even if stable, schedule evaluations every 3–6 months to track progression.
Where Can I Find More Support?
- Chinese organizations:
- Huntington’s Disease Association (offers patient groups and doctor referrals).
- International resources:
- Huntington’s Disease Society (HDS website), European Huntington’s Disease Network.
- Genetic counseling: Major tertiary hospitals’ genetics departments.
Remember: You’re not alone! Professional teams and patient communities are here to support you.
> While Huntington’s disease gradually impacts daily life, many patients maintain quality of life through medications, rehab, and proactive management. Work closely with your doctor and celebrate small progress at each stage. (This content does not replace professional medical advice.)