Advances In The Understanding And Management Of Neuromuscular Diseases

Alberto J. L. Macario, and Everly Conway de Macario

Abstract

Skeletal muscles are essential for virtually all human activities but they would not function without the nerves that serve them. Life safety in our moving world indoors and outdoors depends on an optimal neuromuscular system. Molecular chaperones are indispensable for development and maintenance of muscles and nerves throughout the life span of an individual. It follows that chaperone failure may affect seriously the neuromuscular system. Indeed, chaperone deficiency does occur and can cause disease, a chaperonopathy. Many chaperonopathies affect primarily muscles and nerves, causing neuro-myopathies. These pathologic conditions are discussed here and illustrative examples are presented, focusing on the information provided in an open access eBook recently published and available to all. The notion that chaperones can be pathogenic must be borne in mind by physicians and health professionals in practice and research; it will enable them to improve differential diagnosis and patient management. Chaperonopathies may be involved in the mechanism of many diseases, not just those affecting preferentially muscles and nerves, but they go undiagnosed because currently they are not in the medical curricula. This article is an attempt to correct, at least partially, this deficiency.

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