5 Limb‐girdle syndromes are seen at all ages and include a wide variety of conditions. Classifying such syndromes can be challenging due to their slowly progressive nature, myriad etiologies ranging… Click to show full abstract
5 Limb‐girdle syndromes are seen at all ages and include a wide variety of conditions. Classifying such syndromes can be challenging due to their slowly progressive nature, myriad etiologies ranging from genetic, inflammatory, metabolic, drug‐induced and endocrinal diseases, and heterogeneous ways of clinical presentations. Storage myopathies, being uncommon and requiring special investigative workup, pose particular diagnostic difficulties. In this context, the manuscript in the current issue of Annals of Indian Academy of Neurology[1]; “Mutation Spectrum of Primary Lipid Storage Myopathies” provides us with an in‐depth analysis of this rare group of metabolic myopathies—the Lipid Storage Myopathies. There have been case reports from many parts of India about these uncommon diseases, but the current manuscript is the first case series from India, which provides detailed analysis and long follow‐up of genetically confirmed cases of lipid storage myopathies from a neuromuscular center in south India.
               
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