Dysferlinopathy is a rare autosomal recessive muscular dystrophy caused by mutations in the dysferlin gene, with a global prevalence of approximately 1–5 cases per million population. Its incidence is estimated to range from 1 in 200,000 to 1 in 1,000,000 live births; however, it is often underdiagnosed due to clinical variability and limited awareness. Clinically, it presents as limb-girdle muscular dystrophy type 2B and is characterized by progressive muscle weakness, difficulty in climbing stairs, calf muscle hypertrophy, elevated serum creatine phosphokinase levels, and a positive Gower’s sign. Currently, there is no definitive cure in conventional medicine, and management remains largely supportive. In Āyurvedic perspective, this may be correlated with Māṁsa-medogata vāta. Pañcakarma therapies play a significant role in improving muscle function in both qualitative and quantitative perspectives. The intervention demonstrated notable improvement in muscle strength, functional mobility, and overall quality of life.
Dr. D. Priyadarshini*1, Dr. V. Lakshmana Prasad2, Dr. K. Harshavardhana Appaji3 (Wed,) studied this question.