Autopsy investigation of disorders of skeletal muscle and peripheral nerves.

Abstract

Postmortem examination of peripheral nerve and skeletal muscle will often provide useful information for understanding clinical conditions in which neuromuscular features are present. A common misconception is that postmortem sampling of nerves, and particularly muscle, is of limited value because of autolytic change and loss of enzyme activity. Many of the histochemical techniques used for the analysis of muscle biopsies, however, can be used even if there is a postmortem delay of several days. Simple morphology may also be informative, even in muscle samples taken from a 3,200-year-old mummy, which allowed the diagnosis of trichinella infection (de Boni et al. 1977). A neuromuscular disorder may be either the primary disease which has led to the death of the individual or a complication of a systemic disorder, e. g. paraneoplastic diseases or critical illness myoneuropathy. Many skeletal muscle disorders also affect cardiac muscle, e.g. muscular dystrophies and mitochondrial myopathies, which can lead to conduction defects, cardiomyopathy and sudden cardiac death. Involvement of respiratory muscles may result in respiratory failure. Involvement of bulbar muscles predisposes to choking; this occurs in neurogenic disorders, such as motor neuron disease and in myopathic disorders, including the muscular dystrophies. As in all autopsies, a clear understanding of the underlying pathology is of great educational value to clinicians and helps in explaining the cause of death to family members.KeywordsMuscular DystrophyDuchenne Muscular DystrophySpinal Muscular AtrophyMotor Neuron DiseaseAnterior Horn CellThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.