Category : Neurology
Neuro-muscular dystrophies (NMDs) represent a group of genetically heterogeneous disorders characterized by progressive muscle weakness, functional decline, and significant impact on quality of life. The complexity of these conditions demands more than isolated clinical interventions — it requires early diagnosis, genetic precision, ethical counselling, multidisciplinary management, and sustained family support.
Recognizing this need, Department of Medical Genetics and Department of Biochemistry, Medical College, JSS Academy of Higher Education & Research and JSS Hospital, Mysuru, in collaboration with BharathMD foundation, has established a Multidisciplinary Neuro-Muscular Dystrophy (NMD) Clinic, envisioned as a comprehensive care model integrating clinical services, genetics, counselling, rehabilitation, research, and community engagement.
Scientific Rationale for a Multidisciplinary Model
Neuromuscular disorders often involve multi-system complications affecting cardiac, respiratory, metabolic, orthopedic, and psychosocial domains. Delays in diagnosis, lack of coordinated care, and limited access to genetic counselling frequently contribute to disease progression and caregiver distress.
The JSS Multidisciplinary NMD Clinic has been structured to address these challenges through:
- Standardized clinical diagnostic pathways
- Molecular confirmation through advanced genetic testing
- Carrier screening and cascade testing for at-risk families
- Ethical and psychosocial counselling integrated into routine care
- Cardiac, respiratory, and rehabilitative surveillance protocols
- Seamless pediatric-to-adult transition care
This integrated framework ensures continuity of care across the lifespan while enabling early intervention and preventive strategies.
Genetics and Family-Centred Care
A core strength of the clinic lies in its emphasis on medical genetics and family-oriented counselling. Genetic testing not only enables precise diagnosis but also provides families with clarity regarding recurrence risks, carrier status, and informed reproductive choices.
Equally important is the clinic’s commitment to ethical counselling — supporting families through emotionally complex decisions with sensitivity, transparency, and respect for autonomy. Parents are recognized as partners in care, not merely recipients of information.
Parent Voices and Community Engagement
An essential component of the initiative is its strong focus on parent engagement and lived experience. Interactive discussions with families highlighted the emotional, social, and practical challenges faced by caregivers — from navigating delayed diagnoses to managing long-term care and uncertainty.
These dialogues reinforced the importance of:
- Clear communication
- Empathetic counselling
- Long-term psychosocial support
- Trust-based clinician–family relationships
Such engagement ensures that clinical care remains grounded in real-world needs and experiences.
Integration of Research and Advocacy
The clinic also serves as a platform for translational research, data registries, and academic collaboration, enabling evidence-based care and future therapeutic exploration. Partnerships with parent advocacy organizations, such as BharathMD Foundation, further strengthen awareness, policy engagement, and community support.
A Model for the Future
The Multidisciplinary NMD Clinic at JSS Hospital represents a shift from fragmented care toward a holistic, ethical, and family-centred model. By integrating science, compassion, and community, the initiative lays a strong foundation for improved outcomes, informed families, and sustained support for individuals living with neuromuscular disorders.
This model aspires not only to serve patients at JSS Hospital but also to contribute to the broader discourse on rare disease care in India.