Abstract
The investigations used to diagnose an inflammatory muscle disease include history and physical examination, evaluation of serum levels of enzymes derived from skeletal muscle, electromyography, magnetic resonance imaging, and muscle histology. The evaluation of patients who may have noninflammatory myopathy includes, but is not limited to, these methods. Additional tools that may be useful include measurements of additional biochemistries, the forearm ischemic exercise test, magnetic resonance spectroscopy, and special tests on muscle tissue. Reports published in the past year have improved and expanded our understanding of the numerous noninflammatory myopathies and how these tools can be used more effectively.
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References and Recommended Reading
Diseases of Skeletal Muscle, edn 1. Edited by Wortmann RL. Philadelphia: Lippincott, Williams & Wilkins, 2000. Text that reviews the normal biology of skeletal muscle and the inflammatory and noninflammatory diseases that affect the tissue in detail. It contains extensive discussions of the various modalities used to evaluate patients with myopathy.
Simon DK, Johns DR: Mitochondrial disorders: clinical and genetic features. Ann Rev Med 1999, 50:111–127. Review of the most recently described group of noninflammatory myopathies with discussions of the best described diseases, and the clinical evaluation of patients when these diagnoses are entertained.
Miro O, Laguno M, Masanes F, et al.: Congenital and metabolic myopathies of childhood or adult onset. Semin Arthritis Rheum 2000, 29:335–347. Review covering 1865 muscle biopsies performed over a 13-year period with clinical correlation.
O’Rourke KS: Myopathies in the elderly. Rheum Dis Clin North Am 2000, 26:647–672. Thorough review of myopathy in elderly patients, with excellent discussion of the sarcopenia or intrinsic myopathy of aging.
Subramanian R, Khardori R: Severe hypophosphatemia: pathophysiologic implications, clinical presentations, and treatment. Medicine 2000, 79:1–8.
Andreu AL, Hanna MG, Reichmann H, et al.: Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med 1999, 341:1037–1044. Describes newly recognized cause of exercise intolerance in adults and provides an example of how molecular analyses of mitochondrial DNA is providing a new understanding of human diseases.
Vladutiu GD: The molecular diagnosis of metabolic myopathies. Neurol Clin 2000, 18:53–104. Detailed review of the metabolic myopathies, including discussions of the classification, laboratory diagnosis, and molecular, histopathologic, and biochemical characteristics of these diseases.
Reijneveld JC, Notermans NC, Linssen WHJP, Wokke JHJ: Benign prognosis in idiopathic hyper-CK-emia. Muscle Nerve 2000, 23:575–579. Report of 31 subjects observed over a mean of 7.2 years.
Sabina R: Myoadenylate deaminase deficiency. Neurol Clin 2000, 18:185–194. Up-to-date discussion of the most prevalent inborn error of metabolism in skeletal muscle.
Rubio JC, Martin MA, De Hoyo P, et al.: Molecular analysis of Spanish patients with AMP deaminase deficiency. Muscle Nerve 2000, 23:1175–1178.
Vladutiu GD: Complex phenotypes in metabolic muscle diseases. Muscle Nerve 2000, 23:1157–1159. Discusses the potential problems that result when DNA abnormalities for two enzyme deficiencies coexist in one person.
McDonald CM, Carter GT, Fritz RC, et al.: Magnetic resonance imaging of denervated muscle: comparison to electromyography. Muscle Nerve 2000, 23:1431–1434. Comparison of the two techniques, providing further evidence of the utility of MRI in the evaluation of diseases of skeletal muscle.
Roden M, Shulman GI: Applications of NMR spectroscopy to study muscle glycogen metabolism in man. Ann Rev Med 1999, 50:277–290.
Videen JS, Haseler LJ, Karpinski NC, Terkeltaub RA: Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy. J Rheumatol 1999, 26:1757–1763.
Tarnopolsky MA, Parise G: Direct measurement of highenergy phosphate compounds in patients with neuromuscular disease. Muscle Nerve 1999, 22:1228–1233. Demonstrates that measurement of ATP, phosphocreatine, and pH provides insight into various metabolic and neuropathic myopathies.
Argov Z, Lofberg M, Arnold DL: Insights into muscle diseases gained by phosphorous magnetic resonance spectroscopy. Muscle Nerve 2000, 23:1316–1334. Thorough review of the clinical application of 31P-magnetic resonance spectroscopy as it pertains to diseases of skeletal muscle.
Rubio JC, Martin MA, Campos Y, et al.: A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle’s disease. Muscle Nerve 2000, 23:129–131.
Martin MA, Rubio JC, De Bustos F, et al.: Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. Muscle Nerve 1999, 22:941–943. Provides further evidence that this deficiency should be suspected in females and males.
Vu TH, Tanji K, Pallotti F, et al.: Analysis of mtDNA deletions in muscle by in situ hybridization. Muscle Nerve 2000, 23:80–85. Discusses the use of molecular techniques to understand mitochondrial myopathies.
Taggart RT, Smail D, Apolito C, Vladutiu GD: Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 1999, 13:210–220.
Vladutiu GD, Bennett MJ, Smail D, et al.: A variable myopathy associated with heterozygosity for the R 503C mutation in carnitine palmitoyltransferase II gene. Mol Genet Metab 2000, 70:134–141.
Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD: Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 2000, 71:10–18. Discusses the significance of coexisting inborn errors in patients.
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Wortmann, R.L., Vladutiu, G.D. The clinical laboratory evaluation of the patient with noninflammatory myopathy. Curr Rheumatol Rep 3, 310–316 (2001). https://doi.org/10.1007/s11926-001-0035-0
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DOI: https://doi.org/10.1007/s11926-001-0035-0