• Patients and caregivers have renewed calls for the inclusion of Huntington’s Disease (HD) in the National Policy for Rare Diseases, highlighting gaps in financial support and treatment access.
• Despite repeated appeals in 2024, both the Union and state governments have yet to categorize HD as a rare disease, leaving affected families burdened with escalating medical costs.
• Huntington’s Disease is a genetic, inherited neurological disorder caused by a mutation in the HTT gene, which produces the huntingtin protein crucial for nerve cell functioning.
• In people with HD, abnormal huntingtin proteins damage and destroy neurons, primarily in the basal ganglia (movement control) and the cortex (thinking and memory).
• If one parent carries the faulty gene, there is a 50% chance of passing the condition to children.
• Globally, HD affects 3 to 7 per 100,000 people, with higher prevalence in populations of European ancestry. In India, the exact number of patients remains unclear due to lack of registry and under-diagnosis.
• Symptoms typically appear in mid-adulthood and include involuntary movements (chorea), abnormal postures, tremors, unusual eye movements, personality changes, emotional disturbances, and cognitive decline.
• The disease worsens progressively, and patients often require full-time care. Life expectancy is usually 15–20 years after symptom onset.
• Currently, there is no cure for HD. Treatment is limited to managing symptoms with medications and supportive therapies.
• Patients and advocacy groups argue that without rare disease recognition, families are denied crucial financial aid, subsidized drugs, and structured support systems.
• Experts stress that including Huntington’s Disease under India’s rare diseases framework is vital for ensuring policy intervention, research funding, and compassionate healthcare for affected families.