Clinical Features, Diagnosis and Treatment Strategies of Limb Girdle Muscular Dystrophy: An Observational Study from South India

Abstract

Objective: The present observational study describes the natural course of clinical features, family history, and diagnosis pattern and treatment strategies in rare genetic disorder, Limb girdle muscular dystrophy (LGMD). Research Design: Observational study Methods: Clinically/Immunohistochemically/genetically confirmed LGMD patients diagnosed between February 2019 and March 2021 were ambispectively included. The primary outcomes, secondary outcomes such as clinical presentations, behavioral problems, diagnosis pattern and treatment strategies were studied. A correlation of primary outcomes and steroid, non-steroid regimens were achieved. The demographic data was expressed using descriptive statistics mean ± standard deviation [SD].  The significance level was fixed at α = 0.05 Results: 300 LGMD patients were included, out of which 272 patients participated in the study. The mean onset age of symptoms was 8-21 years (13.7 ± 1.9). The mean age of wheelchair bound was found to be between 18 years to 37 years (25.23±1.4) in 123 patients. Bedbound status was attained in 22 patients with a mean age between 18 to 49 years (27.5±2). 7 patients reported death during the study phase with a mean age of 39.2±2.4 (38-45). Comparatively, both steroid and non-steroid regimens using patients exhibited loss of ambulation at 38 years of age. The disease confirmation reported was primarily by clinical examinations (89%) and genetic testing was of minimal number (22%). Conclusion: The outcome measures in the large cohort is similar to that of the Western population despite variability in medical prudence. The contemporary observational study adds to the real-world evidence in approaching better research strategies to treat the LGMD community.