title: Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases.
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.
authors.affiliation: Department of Physical Medicine and Rehabilitation, University of California Davis Medical Center, 4860 Y Street, Suite 3850, Sacramento, CA 95817, USA. cmmcdonald@ucdavis.edu
authors.forename: Craig M
authors.initials: CM
authors.lastname: McDonald
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics; D019411:Clinical Laboratory Techniques; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008487:Medical History Taking; D053580:Muscle Strength; D018482:Muscle, Skeletal / Q000503:physiopathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000139:chemically induced / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D020511:Neuromuscular Junction Diseases / Q000175:diagnosis; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000235:genetics; D010808:Physical Examination; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics