LQHS2201 - CMLE - MUSCLE BIOPSY FOR NEMALINE ROD MYOPATHY: CHALLENGES AND INSIGHTS-MUSCLE BIOPSY FOR NEMALINE ROD MYOPATHY: CHALLENGES AND INSIGHTS

MUSCLE BIOPSY FOR NEMALINE ROD MYOPATHY: CHALLENGES AND INSIGHTS

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The document discusses a case study involving a 3-month-old boy with developmental concerns who underwent a muscle biopsy to confirm a diagnosis of nemaline rod myopathy. The document outlines the challenges and protocols involved in handling skeletal muscle biopsies for electron microscopy, emphasizing the importance of proper tissue collection and processing to minimize artifacts. The muscle biopsy processing involves dividing the specimen into three fragments for formalin fixation, frozen section, and electron microscopy. Detailed guidelines are provided for the freezing and sectioning of the muscle specimen to ensure optimal processing and analysis. The correct procedures for muscle biopsy location, procurement, and storage are highlighted to prevent common artifacts that could affect the accuracy of the diagnosis. The importance of avoiding freezing artifacts and ensuring proper fixation for electron microscopy is also emphasized. The document concludes with a summary of the critical role of proper tissue processing in diagnosing muscle disorders and the significance of muscle biopsy analysis in treatment decisions.

Keywords

3-month-old boy

developmental concerns

muscle biopsy

nemaline rod myopathy

skeletal muscle biopsies

electron microscopy

tissue collection

processing protocols

freezing artifacts

diagnosis accuracy