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Electrophysiological, pathological, and molecular study in diagnosis of neuromuscular disease

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Author:
No author available
Journal Title:
Chinese Medical Journal
Issue:
18
DOI:
10.3760/cma.j.issn.0366-6999.2012.18.001
Key Word:
neuromuscular disease;electromyography;pathology;genetic test

Abstract: Neuromuscular disorders are commonly encountered in neurological practices.They may lead to significant disability or death.The accurate and early diagnosis of a cause is very important for the effective treatment and reduction in the disability and improved quality of life.A comprehensive history and physical examination is essential to aid classification of the neuromuscular disorder. In some instances,the diagnosis of a specific neuromuscular condition can be made entirely on clinical grounds,such as a patient with carpal tunnel syndrome,while in many cases the presenting sytnptoms are nonspecific and could be the result of several possible etiologies,such as a patient with generalized weakness that may be the result of a myopathy,neuromuscular junction disorder,peripheral neuropathy,or motor neuron disease.Therefore,in practice, ancillary examinations iucluding electrodiagnostic testing,biopsy of muscle and nerve,and molecular diagnostic tests are integral and complementary components of the evaluation of patients with suspected neuromuscular conditions.

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