GeneticDisorder – Experts Seek Stronger Support for Huntington’s Disease Patients
GeneticDisorder – Huntington’s disease, a hereditary neurological condition that gradually damages brain cells, is drawing renewed attention from medical professionals and patient advocates who believe the disorder should be formally covered under India’s National Policy for Rare Diseases. Experts say such recognition would help patients gain quicker diagnosis, better medical support, and more affordable treatment options.
Demand for Inclusion Under Rare Disease Policy
Specialists speaking at an awareness event organised by the Huntington Disease Society of India (HDSI) stressed that the condition remains poorly recognised despite its severe impact on patients and families. They argued that bringing Huntington’s disease under the national rare disease framework would reduce delays in treatment and improve access to specialised healthcare facilities.
Dr. Sanjeev Jain, Emeritus Senior Professor of Psychiatry at the National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, said official recognition is one of the biggest challenges faced by affected families. According to him, many caregivers continue to experience social stigma and discrimination because awareness about the disease remains limited.
Lack of National Data Raises Concerns
Medical experts also highlighted the absence of reliable national data on Huntington’s disease cases in India. Without proper records, they said, healthcare planning and support systems remain weak. Doctors and advocacy groups are now calling for the creation of a secure national registry that can document patient numbers while protecting personal identity and medical privacy.
Although exact figures are unavailable, experts estimate that the prevalence of Huntington’s disease in India could be nearly half of what has been observed in European countries, where roughly five people per one lakh population are believed to be affected.
Emotional and Mental Health Burden
Doctors noted that the illness affects more than physical movement. Huntington’s disease can lead to emotional instability, depression, and a gradual decline in thinking ability. Dr. Jain explained that depression is often one of the earliest signs noticed in patients. In many cases, individuals struggle emotionally after realising changes in their behaviour, memory, and daily functioning.
He added that despite decades of medical research, there is still no treatment capable of stopping or reversing the disease. Current therapies mainly focus on managing symptoms and improving quality of life.
Families Face Lifelong Challenges
Venkateswara Rao Koushik, Chairman of HDSI, said the inherited nature of Huntington’s disease creates emotional stress for entire families. Since the condition is passed genetically, close blood relatives may also carry the same risk. Koushik, who is personally caring for his bedridden wife diagnosed with the disorder, said families often face years of uncertainty and financial pressure.
He pointed out that scientific research has continued since the disease-causing gene was identified in 1993, but no permanent cure has yet emerged. According to him, better policy support and awareness can still make a major difference in patient care.
Need for Awareness and Medical Training
Healthcare professionals attending the meeting also raised concerns over the limited understanding of rare diseases among doctors and medical students. Dr. Hemlata Bhatia, Vice President of Genomics at Agilus Diagnostics, said many medical interns are unfamiliar with genetic testing procedures and even basic terminology related to rare disorders.
Dr. Arpit Agarwal, Director of Medical Affairs at EMMES CRO, suggested the establishment of an independent institute dedicated to rare disease research, medical training, and public awareness campaigns. He said India requires stronger infrastructure and specialised education to address the growing challenges linked to genetic disorders.
Diagnosis Often Happens Too Late
Experts further warned that delayed diagnosis remains a serious issue because symptoms usually appear later in life and can initially resemble psychiatric or neurological problems. Anil Raina, former General Manager at Sanofi’s speciality care division, said many patients fail to recognise the early warning signs, causing valuable treatment time to be lost.
India introduced the National Policy for Rare Diseases in 2021, but specialists believe broader implementation and disease-specific inclusion are essential to improve care for Huntington’s disease patients across the country.