Clinical Approach to the Diagnostic Evaluation of Hereditary and Acquired Neuromuscular Diseases

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.