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Diseases of Muscle

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Clinical Handbook of Neuromuscular Medicine
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Abstract

Myopathies can present with negative (such as weakness) or positive (such as myalgia and cramps) symptoms. Recognition of certain characteristic patterns of muscle weakness on exam can narrow the differential diagnosis. Serum creatine kinase, focused serologic testing, electromyography, exercise test, muscle imaging, biopsy, and genetic testing are useful to reach a specific diagnosis. The key clinical features, laboratory, EMG, and histopathologic abnormalities of the most common myopathies are discussed below.

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Abbreviations

AQM:

Acute quadriplegic myopathy

CK:

Creatine kinase

DM:

Dermatomyositis

DM1:

Myotonic dystrophy type 1

DM2:

Myotonic dystrophy type 2

FSHD:

Facioscapularhumeral dystrophy

IBM:

Inclusion body myositis

LGMD:

Limb girdle muscular dystrophy

MELAS:

Mitochondrial myopathy, lactic acidosis, and stroke-like episodes

MERRF:

Myoclonic epilepsy and ragged red fibers

MNGIE:

Mitochondrial neurogastro-intestinal encephalomyopathy

OPMD:

Oculopharyngeal muscular dystrophy

PM:

Polymyositis

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Correspondence to Georgios Manousakis MD .

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Manousakis, G. (2018). Diseases of Muscle. In: Walk, D. (eds) Clinical Handbook of Neuromuscular Medicine . Springer, Cham. https://doi.org/10.1007/978-3-319-67116-1_2

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  • DOI: https://doi.org/10.1007/978-3-319-67116-1_2

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