The combination of physical therapy, nutrition, and emotional support does not just treat symptoms; it provides the patients with dignity and care and significantly improves the quality of their everyday lives.

Rare Diseases become essential to shed light on these debilitating but often ignored diseases. Owing to India’s large population, around 70 million people grapple with 450 rare diseases. Spinal Muscular Atrophy is one such rare disease. Spinal Muscular Atrophy (SMA) is a rare disorder that impacts the motor neurons in the spinal cord.

It Is A Genetic Disorder

The consequence of the disease is gradual muscle weakness and progressive loss of movement. SMA is a progressive condition that poses significant challenges, be it physical, emotional, social, or financial. Without timely diagnosis and intervention, most patients are unable to survive beyond their second birthday. In cases where they survive, their quality of life is heavily impacted.

SMA Type 1

SMA Type 1 patients, primarily children, undergo the loss of motor neurons situated in the spinal cord, which detrimentally affects their capacity to crawl, walk, sit, and manage head movements.

• Many routine tasks are complex, like holding a glass of water, swallowing food, climbing a step, or kicking a football. Other symptoms include the weakening of arms and legs, challenges in movement (sitting, crawling, or walking), muscle tremors, and bone and joint issues. Respiratory complications, the most significant symptoms of SMA, are caused by the weakening of the muscles required for breathing and the underdevelopment of the lungs.

• With thousands affected by rare diseases in India, raising awareness, providing support, and implementing effective early identification and intervention strategies are crucial. Along with the various challenges the patients face, the family and the caregivers also experience several struggles and hardships, including emotional, physical, and financial strains and lifestyle adjustments.

To Improve Patient’s Quality Of Life

The approach to managing the disorder and its symptoms plays a significant role.

• Alongside the collaboration of specialists like Pediatricians, Neurologists, and Orthopedics, the role of Physical therapists, palliative care specialists, and psychologists is of significant importance as they strive to enhance the daily lives of the patients dealing with SMA and their caregivers. This approach emphasises the interconnected need for physical, nutritional, and emotional well-being.
• The aim of multidisciplinary and comprehensive care for SMA patients, as an extension to patients dealing with other rare diseases, is to prolong and enrich patients’ lives. The combination of physical therapy, nutrition, and emotional support does not just treat symptoms; it provides the patients with dignity and care and significantly improves the quality of their everyday lives.

(Consultant Neurologist Dr Jasodhara Chaudhuri, Pediatric Neurologist Assistant Professor of Neurology at NRS Medical College and Hospital, has verified this article)