Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

For diagnostic evaluation of a neuromuscular disease, the clinician must be able to obtain a relevant patient and family history and perform focused general, musculoskeletal, neurologic, and functional physical examinations to direct further diagnostic evaluations. Laboratory studies for hereditary neuromuscular diseases include the relevant molecular genetic studies. The electromyogram and nerve-conduction studies remain an extension of the physical examination, and help to guide further diagnostic studies such as molecular genetics and muscle and nerve biopsies. All diagnostic information needs are to be interpreted within the context of relevant historical information, family history, physical examination, laboratory data, electrophysiology, pathology, and molecular genetics.

Original languageEnglish (US)
Pages (from-to)495-563
Number of pages69
JournalPhysical Medicine and Rehabilitation Clinics of North America
Volume23
Issue number3
DOIs
StatePublished - Aug 2012

Keywords

  • Diagnostic evaluation
  • History
  • Motor neuron disease
  • Myopathy
  • Neuromuscular disease
  • Neuromuscular junction
  • Neuropathy
  • Physical examination

ASJC Scopus subject areas

  • Rehabilitation
  • Physical Therapy, Sports Therapy and Rehabilitation

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