Panchakarma Based Therapeutic Interventions in GNE Myopathy- Insights Through A Case Study

Abstract

GNE myopathy is a rare autosomal recessive muscular disorder characterized by progressive skeletal muscle atrophy, primarily due to mutations in the GNE gene. In Ayurvedic perspective, this condition is categorized as an Adibala Pravrutta Vyadhi, where Dushti in Beejabhaga Avayava is considered the underlying pathogenic factor. This case study aims to evaluate the efficacy of a comprehensive Panchakarma protocol in improving muscle strength, functional mobility, and overall quality of life in a patient with GNE myopathy. Methods: A 29-year-old female patient, diagnosed with GNE myopathy, presented with bilateral lower limb weakness, difficulty in walking, and impaired ability to rise from a squatting position. The patient underwent an integrative Panchakarma management protocol, which included Sarvanga Abhyanga, Dashamoola Kashaya Seka, Shashtika Shali Pinda Sweda, Mustadi Yapana Basti, Anuvasana Basti with Brihat Chagaladi Ghrita. The therapeutic focus was on Amaharana, Srotoshodhana and Brimhana, aiming to restore systemic balance and muscle function. Results: Post-intervention, the patient demonstrated significant clinical improvement. Objective assessments revealed enhanced lower limb muscle strength, improved ability to walk independently, increased confidence in climbing stairs, and a notable improvement in the GNE Myopathy Functional Activity Score (GNEM-FAS). Subjective reports indicated better overall well-being and functional capacity. Discussion: This case highlights the potential role of Panchakarma therapies in the multidisciplinary management of GNE myopathy. The combined approach of Srotoshodhana and Brimhana may contribute to symptomatic relief and functional enhancement by improving microcirculation, reducing muscle wasting, and promoting systemic nourishment. Conclusion: Therefore, this case study highlights the potential of Panchakarma in improving the quality of life in such rare genetic disorders.