Skip to main content

Advertisement

SpringerLink
Log in

Differential diagnosis of idiopathic inflammatory myopathies

  • Published:
Current Rheumatology Reports Aims and scope Submit manuscript

Abstract

Symmetric proximal muscle weakness has many potential etiologies. An onset over weeks to months and elevated serum levels of muscle enzymes point to the diagnosis of an idiopathic inflammatory myopathy, including dermatomyositis, polymyositis, and inclusion body myositis. However, there is a broad differential diagnosis, including certain muscular dystrophies, metabolic myopathies, drug- or toxin-induced myotoxicity, neuropathies, and infectious myositides. The differentiation is critical for defining appropriate treatment. In addition, an alternative diagnosis may explain the lack of response to immunosuppressive treatment for some patients with polymyositis. Careful clinical evaluation and choice of available diagnostic tests are required to establish the correct diagnosis.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References and Recommended Reading

  1. Dalakas MC: Muscle biopsy findings in inflammatory myopathies. Rheum Dis Clin North Am 2002, 28:779–798. An excellent summary of the key histopathologic features of dermatomyositis, polymyositis, and IBM. The author does not adequately address the classification of myositis patients who lack the specific histopathologic features of these three forms of IIM.

    Article  PubMed  Google Scholar 

  2. Zampieri S, Ghirardello A, Iaccarino L, et al.: Anti-Jo-1 antibodies. Autoimmunity 2005, 38:73–78.

    Article  PubMed  CAS  Google Scholar 

  3. van der Meulen MF, Bronner IM, Hoogendijk JE, et al.: Polymyositis: an overdiagnosed entity. Neurology 2003, 61:316–321. In this retrospective follow-up study of 165 patients with autoimmune myositis, polymyositis was the least common form when defined pathologically by the presence of lymphocytes surrounding and preferably invading non-necrotic muscle fibers. Most of the patients had a myositis with strictly perimysial/perivascular infiltrates or a non-inflammatory necrotizing myopathy that could not be further categorized.

    PubMed  Google Scholar 

  4. Tsokos GC, Moutsopoulos HM, Steinberg AD: Muscle involvement in systemic lupus erythematosus. JAMA 1981, 246:766–768.

    Article  PubMed  CAS  Google Scholar 

  5. Ghirardello A, Zampieri S, Iaccarino L, et al.: Anti-Mi-2 antibodies. Autoimmunity 2005, 38:79–83.

    Article  PubMed  CAS  Google Scholar 

  6. Lacomis D: Electrodiagnostic approach to the patient with suspected myopathy. Neurol Clin 2002, 20:587–603. A detailed summary of the utility of electrodiagnostic testing in the differential diagnosis of myopathies.

    Article  PubMed  Google Scholar 

  7. Luciano CA, Dalakas MC: Inclusion body myositis: no evidence for a neurogenic component. Neurology 1997, 48:29–33.

    PubMed  CAS  Google Scholar 

  8. Dion E, Cherin P, Payan C, et al.: Magnetic resonance imaging criteria for distinguishing between inclusion body myositis and polymyositis. J Rheumatol 2002, 29:1897–1906. A study of the MRI abnormalities in the thigh muscles of 25 polymyositis and 25 IBM patients. The pattern of abnormalities was different, allowing for differentiation of the two disorders.

    PubMed  Google Scholar 

  9. Lam WW, Chan H, Chan YL, et al.: MR imaging in amyopathic dermatomyositis. Acta Radiol 1999, 40:69–72.

    Article  PubMed  CAS  Google Scholar 

  10. Griggs RC, Askanas V, DiMauro S, et al.: Inclusion body myositis and myopathies. Ann Neurol 1995, 38:705–713.

    Article  PubMed  CAS  Google Scholar 

  11. Troyanov Y, Targoff IN, Tremblay JL, et al.: Novel classification of idiopathic inflammatory myopathies based on overlap syndrome features and autoantibodies: analysis of 100 French Canadian patients. Medicine (Baltimore) 2005, 84:231–249. The authors test two modifications of the Bohan and Peter criteria that are based on the presence of clinical features and/or autoantibodies that overlap with other connective tissue diseases. Most of the patients in their cohort of IIM have "overlap myositis".

    Article  Google Scholar 

  12. Miller F, Rider L, Plotz P, et al.: Diagnostic criteria for polymyositis and dermatomyositis. Lancet 2003, 362:1762–1763. A letter to the editor written by myositis experts voicing concern about the adoption of pathology-driven categorization of the inflammatory myopathies.

    Article  PubMed  Google Scholar 

  13. van der Pas J, Hengstman GJ, ter Laak HJ, et al.: Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatry 2004, 75:136–139. Major histocompatibility complex class I staining has utility in differentiating the IIM from other forms of myopathy.

    PubMed  Google Scholar 

  14. Greenberg SA, Walsh RJ: Molecular diagnosis of inheritable neuromuscular disorders. Part II: application of genetic testing in neuromuscular disease. Muscle Nerve 2005, 31:431–451. An update on molecular testing that is now available to diagnose inheritable neuromuscular disorders, including many forms of muscular dystrophy and metabolic myopathy.

    Article  PubMed  CAS  Google Scholar 

  15. Pogue R, Anderson LV, Pyle A, et al.: Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2001, 11:80–87. An approach to the molecular diagnosis of the autosomal recessive limb-girdle muscular dystrophies is presented.

    Article  PubMed  CAS  Google Scholar 

  16. Lundberg I, Nennesmo I, Hedfors E: A clinical, serological, and histopathological study of myositis patients with and without anti-RNP antibodies. Semin Arthritis Rheum 1992, 22:127–138.

    Article  PubMed  CAS  Google Scholar 

  17. Koffman BM, Rugiero M, Dalakas MC: Immune-mediated conditions and antibodies associated with sporadic inclusion body myositis. Muscle Nerve 1998, 21:115–117.

    Article  PubMed  CAS  Google Scholar 

  18. Levin MI, Mozaffar T, Al-Lozi MT, Pestronk A: Paraneoplastic necrotizing myopathy: clinical and pathological features. Neurology 1998, 50:764–767.

    PubMed  CAS  Google Scholar 

  19. Bronner IM, Hoogendijk JE, Wintzen AR, et al.: Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy. J Neurol 2003, 250:480–485. Eight patients are described with symmetrical muscle weakness and marked CK elevation whose muscle biopsies showed a necrotizing myopathy without mononuclear cell infiltrates.

    Article  PubMed  CAS  Google Scholar 

  20. Emslie-Smith AM, Engel AG: Necrotizing myopathy with pipestem capillaries, microvascular deposition of the complement membrane attack complex (MAC), and minimal cellular infiltration. Neurology 1991, 41:936–939.

    PubMed  CAS  Google Scholar 

  21. Kalovidouris AE, Stoesz E, Muller J, et al.: Relationships between clinical features and distribution of mononuclear cells in muscle of patients with polymyositis. J Rheumatol 1988, 15:1401–1406.

    PubMed  CAS  Google Scholar 

  22. Amato AA, Griggs RC: Unicorns, dragons, polymyositis, and other mythological beasts. Neurology 2003, 61:288–289. In this editorial, two neurologists present their arguments in support of the concept that "true polymyositis" is rare and the least common form of IIM.

    PubMed  Google Scholar 

  23. Christopher-Stine L, Plotz PH: Adult infiammatory myopathies. Best Pract Res Clin Rheumatol 2004, 18:331–344.

    PubMed  CAS  Google Scholar 

  24. Hilton-Jones D: Diagnosis and treatment of inflammatory muscle diseases. J Neurol Neurosurg Psychiatry 2003, 74(Suppl II):ii25-ii31.

    PubMed  Google Scholar 

  25. Emery AE: The muscular dystrophies. BMJ 1998, 317:991–995.

    PubMed  CAS  Google Scholar 

  26. Kissel JT: Misunderstandings, misperceptions, and mistakes in the management of the inflammatory myopathies. Semin Neurol 2002, 22:41–51. An expert clinician describes common mistakes made in the diagnosis of the IIM.

    Article  PubMed  Google Scholar 

  27. Gallardo E, Rojas-Garcia R, de Luna N, et al.: Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57:2136–2138. Inflammatory infiltrates were present in the muscle biopsies of nine of 13 patients with dysferlin myopathy; the authors characterize these infiltrates with immunohistochemistry.

    PubMed  CAS  Google Scholar 

  28. Arahata K, Engel AG: Monoclonal antibody analysis of mononuclear cells in myopathies. I: quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells. Ann Neurol 1984, 16:193–208.

    Article  PubMed  CAS  Google Scholar 

  29. Arahata K, Ishihara T, Fukunaga H, et al.: Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve 1995, 2:S56-S66.

    Article  PubMed  CAS  Google Scholar 

  30. Argov Z, Sadeh M, Mazor K, et al.: Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 2000, 123:1229–1237. An analysis of the clinical and genetic features of 29 patients with dysferlinopathy from a cluster of 12 Jewish families of Libyan origin.

    Article  PubMed  Google Scholar 

  31. Confalonieri P, Oliva L, Andreetta F, et al.: Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study. J Neuroimmunol 2003, 142:130–136.

    Article  PubMed  CAS  Google Scholar 

  32. Ricker K: Myotonic dystrophy and proximal myotonic myophathy. J Neurol 1999, 246:334–338.

    Article  PubMed  CAS  Google Scholar 

  33. Wortmann RL, DiMauro S: Differentiating idiopathic inflammatory myopathies from metabolic myopathies. Rheum Dis Clin N Am 2002, 28:759–778. The authors review the clinical, laboratory, and genetic features that distinguish the IIM from the metabolic myopathies.

    Article  Google Scholar 

  34. DiMauro S, Hays AP, Tsujino S: Nonlysosomal glycogenoses. In Myology: Basic and Clinical. Edited by Engel AG, Franzini-Armstrong C. New York: McGraw-Hill; 2004:1535–1558.

    Google Scholar 

  35. DiMauro S, Lamperti C: Muscle glycogenoses. Muscle Nerve 2001, 24:984–999. A review of the clinical and laboratory features of the 11 hereditary disorders of glycogen metabolism.

    Article  PubMed  CAS  Google Scholar 

  36. Danon MJ, Servidei S, DiMauro S, Vora S: Late-onset muscle phosphofructokinase deficiency. Neurology 1988, 38:956–960.

    PubMed  CAS  Google Scholar 

  37. Trend PS, Wiles CM, Spencer GT, et al.: Acid maltase deficiency in adults. Diagnosis and management in five cases. Brain 1985, 108:845–860.

    Article  PubMed  Google Scholar 

  38. Cornelio F, Bresolin N, Singer PA, et al.: Clinical varieties of neuromuscular disease in debrancher deficiency. Arch Neurol 1984, 41:1027–1032.

    PubMed  CAS  Google Scholar 

  39. Johnston W, Karpati G, Carpenter S, et al.: Late-onset mitochondrial myopathy. Ann Neurol 1995, 37:16–23.

    Article  PubMed  CAS  Google Scholar 

  40. Kiechl S, Kohlendorfer U, Thaler C, et al.: Different clinical aspects of debrancher deficiency myopathy. J Neurol Neurosurg Psychiatry 1999, 67:364–368.

    Article  PubMed  CAS  Google Scholar 

  41. DiMauro S, Schon EA: Mitochondrial respiratory-chain diseases. N Engl J Med 2003, 348:2656–2668. An excellent review of mitochondrial diseases and their genetics.

    Article  PubMed  CAS  Google Scholar 

  42. Nardin RA, Johns DR: Mitochondrial dysfunction and neuromuscular disease. Muscle Nerve 2001, 24:170–191. A comprehensive review of the neuromuscular manifestations of mitochondrial disease.

    Article  PubMed  CAS  Google Scholar 

  43. Sciacco M, Prelle A, Comi GP, et al.: Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. J Neurol 2001, 248:778–788. The authors correlate genotype with phenotype in 207 patients affected with mitochondrial disorders. This is an excellent summary of the clinical, laboratory, and histologic features of a large cohort of patients with mitochondrial myopathies.

    Article  PubMed  CAS  Google Scholar 

  44. Taylor RW, Schaefer AM, Barron MJ, et al.: The diagnosis of mitochondrial muscle disease. Neuromuscul Disord 2004, 14:237–245. The authors provide a step-by-step approach to the clinical and laboratory diagnosis of mitochondrial myopathies.

    Article  PubMed  Google Scholar 

  45. Khaleeli AA, Griffith DG, Edwards RHT: The clinical presentation of hypothyroid myopathy and its relationship to abnormalities in structure and function of skeletal muscle. Clin Endocrinol 1983, 19:365–376.

    Article  CAS  Google Scholar 

  46. Lacomis D, Zochodne DW, Bird SJ: Critical illness myopathy. Muscle Nerve 2000, 23:1785–1788.

    Article  PubMed  CAS  Google Scholar 

  47. Kallen PS, Louie JS, Nies KM, Bayer AS: Infectious myositis and related syndromes. Semin Arthritis Rheum 1982, 11:421–439.

    Article  PubMed  CAS  Google Scholar 

  48. Cuturic M, Hayat GR, Vogler CA, Velasques A: Toxoplasmic polymyositis revisited: case report and review of the literature. Neuromusc Dis 1997, 7:390–396.

    Article  PubMed  CAS  Google Scholar 

  49. Walji S, Rubenstein J, Shannon P, Carette S: Disseminated pyomyositis mimicking idiopathic inflammatory myopathy. J Rheumatol 2005, 32:184–187.

    PubMed  Google Scholar 

  50. Reveille JD: The changing spectrum of rheumatic disease in human immunodeficiency virus infection. Semin Arthritis Rheum 2000, 30:147–166.

    Article  PubMed  CAS  Google Scholar 

  51. Maselli RA, Richman DP, Wollmann RL: Inflammation at the neuromuscular junction in myasthenia gravis. Neurology 1991, 41:1497–1504.

    PubMed  CAS  Google Scholar 

  52. Sieb JP: Myopathies due to drugs, toxins, and nutritional deficiency. In Myology: Basic and Clinical. Edited by Engel A, Franzini-Armstrong L. New York: McGraw-Hill; 2004:1693–1712.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Medicine, Division of Allergy, Immunology, and Rheumatology, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Erie County Medical Center, 462 Grider Street, 14215, Buffalo, NY, USA

    Alan N. Baer MD

Authors
  1. Alan N. Baer MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Alan N. Baer MD.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Baer, A.N. Differential diagnosis of idiopathic inflammatory myopathies. Curr Rheumatol Rep 8, 178–187 (2006). https://doi.org/10.1007/s11926-996-0023-5

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11926-996-0023-5

Keywords

Search

Navigation