NEWS – Patients, Caregivers Struggle as Cure & Govt Support Elude Huntington’s Disease

HIGHLIGHTERS

What is Huntington’s Disease?

• A rare, incurable genetic disorder caused by mutation in the Huntingtin (HTT) gene on chromosome 4.
• Occurs when the CAG sequence repeats more than 40 times.
• Inherited from a parent; severity depends on number of repeats.

Impact on Health

• Cognitive decline: Similar to Alzheimer’s/dementia (memory loss, poor decision-making).
• Psychiatric issues: Depression, anxiety, irritability, psychosis, suicidal ideation.
• Physical symptoms: Chorea (sudden dance-like movements), stiffness, progressive immobility.
• Complications: Heart disease, pneumonia, or suicide often lead to death.

Treatment & Therapies

• No cure available.
• Current management:
  • Antidepressants for psychiatric issues.
  • Tetrabenazine for chorea.
  • Physiotherapy, speech & swallow therapy.
• Emerging research: Gene therapy, antisense oligonucleotides, monoclonal antibodies – in clinical trials.

Diagnosis

• Earlier: Often misdiagnosed as Alzheimer’s, dementia, or Parkinson’s.
• Now: Genetic testing available in India (earlier required sending samples abroad).

Huntington’s in Children

• Rare, but more severe.
• Symptoms: Body stiffness, delayed speech.
• Life expectancy: 15–20 years post-diagnosis.
• Cannot be detected during pregnancy (unlike Down Syndrome).

Policy Gaps & Demands

• Not yet included in India’s National Policy for Rare Diseases (NPRD).
• Recognition crucial for financial aid and institutional support.
• Caregivers demand inclusion under NPRD (2024).