New PDF release: Neuromuscular Diseases: A Practical Approach to Diagnosis

Diagnosis

By Michael Swash MD, FRCP, MRCPath, Martin Schwartz MD (auth.)

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Additional resources for Neuromuscular Diseases: A Practical Approach to Diagnosis and Management

Sample text

Sometimes these investigations may themselves lead directly to diagnosis: for example the muscle biopsy in polymyositis is often characteristically abnormal. However, in other patients investigation may clarify the problem without providing a definite answer. Further, in some instances physiological (EMG) and pathological (biopsy) investigations may provide apparently contradictory results (Black et al. 1974). Biochemical Tests An overall assessment of the patient's general status is often useful, including haematological and biochemical evaluation, and relevant radiological examinations.

Pain and Cramps It is useful to differentiate between muscular pain at rest and on exercise. Muscular pain at rest is usually a dull discomfort or ache, which may be accompanied by tenderness on palpation. It occurs in polymyositis and in viral infections but may also occur in neurogenic disorders such as GuillainBarre syndrome and, in the arms, as a presenting feature of neuralgic amyotrophy. In polymyalgia rheumatica pain, tenderness and stiffness, usually principally affecting the shoulder, are major features, Muscle pain may be focal or diffuse.

1984). mation. The immunological abnormalities characteristic of myasthenia gravis, and of mixed connective tissue and other autoimmune disorders, form characteristic features of the clinical abnormality. Red blood cells show morphological abnormalities in blood films in some patients with Imaging spinocerebellar degeneration, McLeod's syndrome and Duchenne muscular dystrophy, but this is rarely of practical use in patient management. Nuclear Magnetic Resonance Spectroscopy Fibroblast cultures can be used for characterisation of specific biochemical enzymatic abnormalities.

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