Teachable Moment: Hereditary Neuromuscular Etiologies of Rhabdomyolysis-Video

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Mike Skolka discusses the hereditary neuromuscular etiologies of rhabdomyolysis, a condition marked by muscle breakdown and elevated serum creatine kinase levels. While often provoked by factors like trauma or exertion, 25% of rhabdomyolysis cases are linked to hereditary myopathies, which can be metabolic (e.g., glycogen or lipid storage diseases) or non-metabolic (e.g., muscular dystrophies). Genetic causes are considered, especially in recurrent or familial cases. Evaluation involves history, lab tests, possible genetic testing, and diagnostic imaging. An article on this topic detailing an algorithm for diagnosis is available for further reading.

Keywords

rhabdomyolysis

hereditary myopathies

muscle breakdown

genetic testing

diagnostic algorithm