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Non-inflammatory myopathies 

Non-inflammatory myopathies
Chapter:
Non-inflammatory myopathies
Source:
Oxford Textbook of Rheumatology (4 ed.)
Author(s):

Mark Roberts

DOI:
10.1093/med/9780199642489.003.0126

Non-inflammatory myopathies (NIM) are a diverse group of genetic disorders, characterized by neuromuscular weakness, fatigue, muscle wasting, and pain, due to inherited defects in proteins critical in the structural integrity and function of muscle fibre or in enzymes involved in energy production in this most metabolic tissue. The shared clinical and laboratory features (including elevated muscle enzyme levels, myopathic change on electromyography, and even inflammatory changes on muscle biopsy) of myositis and NIM frequently cause diagnostic confusion. Failure to distinguish these disorders will result in unnecessary immunosuppression, lack of screening for cardiorespiratory and other associations of NIM, and a missed opportunity for genetic counselling and potential future treatments. A strong index of suspicion is required in all patients presenting with neuromuscular syndromes if a long diagnostic odyssey is to be avoided. A clinically focused multidisciplinary approach, with a working knowledge of subtypes of NIM, is outlined in this chapter.

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