A clinical approach to muscle diseases.
Muscle diseases constitute a large variety of both acquired and hereditary disorders that can affect muscle structure, metabolism, or the function of the muscle channel. A successful clinical approach to a patient with a suspected myopathy is based on a thorough medical history and neurological examination. Associated clinical symptoms such as myoglobinuria, contractures, myotonia, cardiac disease, and respiratory insufficiency can be extremely helpful in limiting the differential diagnosis. In addition, a phenotypic approach to diagnosis according to the patient's predominant pattern of weakness is essential for guiding the physician in selecting the most appropriate diagnostic studies. Although muscle biopsy remains a useful tool, molecular genetic studies are now available for the noninvasive diagnosis of many muscle diseases.
Jackson
Carlayne E
CE
Department of Neurology, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX 78284-7883, USA. jacksonce@uthscsa.edu
D003402:Creatine Kinase / Q000032:analysis / Q000097:blood; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D018908:Muscle Weakness / Q000209:etiology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009460:Neurologic Examination / Q000379:methods / Q000592:standards
D003402:Creatine Kinase