Optimizing the Skeletal Muscle Biopsy

Abstract

Knowledge of disorders of skeletal muscle remains of importance for the practicing pathologist. While genetic testing has proved useful in the diagnosis of many patients, especially those with the more common forms of muscular dystrophy, less common genetic myopathies, congenital myopathies, and toxic myopathies, often related to commonly used therapeutic agents such as statins, still require pathological analysis for diagnostic purposes. A contemporary pathologist may expect to be consulted about unusual familial neuromuscular disorders, autoimmune disorders, and drug-induced myopathies, often in the context of patients with multiple medical conditions that complicate the clinical and pathological analysis. A working knowledge of skeletal muscle biopsy and its clinical utility as well as its limitations is therefore important for all pathologists. Each pathologist must decide if they wish to process the biopsy in their own laboratory, or if the specimen should be sent to a reference laboratory for analysis.