František Ondriaš, Peter Špalek, Miroslav Orság
Muscle biopsy may be an appropriate test to confirm the diagnosis in certain neuromuscular diseases, especially in some hereditary and acquired myopathies. Complex and precise diagnostics requires compact team cooperation involving neurologist (myologist), surgeon, pathologist and recently also molecular geneticist. Selection of appropriate muscle to biopsy is critical. Muscles that are severely weak should not be biopsied because the results are likely to show only evidence of „end-stage“ muscle disease. Muscle biopsy specimens can be studied through histological, histochemical, biochemical, electron microscopic or genetic techniques. In most instances, light microscopic observations of frozen muscle tissue specimens are sufficient to make a pathological diagnosis. For general histology the hematoxylin-eosin stain and modified Gomori trichrom stain are most useful. Other histochemical reactions can be used to gain additional information, e.g. PAS stain can be helpful in identifying glycogen storage diseases, oil red stains may assist with diagnosis of lipid storage disease, amyloid deposition can be assayed with Congo red, oxidative enzyme stains are useful for identifying myofibrillar and mitochondrial abnormalities. Qualitative biochemical enzymes stains can be performed for myophosphorylase, phosphofructokinase and myoadenylate deaminase deficiency. Finally, immunohistochemical techniques can stain for muscle proteins which are deficient in some muscular dystrophies (e.g., dystrophin in Duchenne and Becker dystrophy) or for products that are increased in certain inflammatory myopathies such as membrane attack complex in dermatomyositis or amyloid in inclusion body myositis. Electron microscopy plays a role in diagnosis of some congenital myopathies and mitochondrial disorders. The specific molecular genetic defect is now known for many of hereditary neuromuscular diseases, and mutations can be identified by peripheral blood DNA analysis. Molecular genetic studies are commercially available and they decrease the need for muscle biopsy.