UpToDate
Official reprint from UpToDate®
www.uptodate.com ©2017 UpToDate®

包涵体肌炎的临床表现与诊断

Authors
Marc L Miller, MD
Thomas E Lloyd, MD, PhD
Section Editors
Ira N Targoff, MD
Jeremy M Shefner, MD, PhD
Deputy Editor
Monica Ramirez Curtis, MD, MPH
Translators
刘毅, 主任医师，教授

引言

散发性包涵体肌炎(inclusion body myositis, IBM)与多发性肌炎、皮肌炎及自身免疫性坏死性肌病均被归为特发性炎性肌病。然而，尽管它们具有一些相似之处，但IBM的临床病理表现与其他同类疾病有明显的不同(表 1)。 (参见“成人皮肌炎与多发性肌炎的临床表现”)

本专题将总结IBM的临床表现和诊断，其治疗和预后将单独讨论。 (参见“包涵体肌炎的治疗与预后”)

流行病学

IBM是一种罕见的散发性疾病，估计的患病率为每百万成人中5-9例[1-3]；然而，也有部分研究估计的患病率高达每百万人中70例[4]。其年发病率的相关数据不足；两项研究报道的年发病率范围为每百万人中1-7.9例[4,5]。由于年长患者诉无力的频率很高，以及IBM中无力症状起病隐匿，本病常被误诊[3]。实际上，本病是50岁以上个体中最常见的获得性特发性炎性肌病[3]。

本病中男性患者多于女性患者[6]。症状出现的平均年龄约为60岁，范围从30岁至90岁。

临床表现

症状及体征 — IBM患者表现为隐匿性起病的肌无力。诊断前症状平均持续大约5年[3,7]。最常见的初始表现是缓慢进展的下肢近端无力，存在从椅子上站起来困难或常常跌倒等表现。部分患者以握力下降为首发表现，如开罐困难。少数情况下，患者可表现为孤立性吞咽困难[7]。

            

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: 2017-06 . | This topic last updated: 2016-03-07.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2017 UpToDate, Inc.
References
Top
  1. Badrising UA, Maat-Schieman M, van Duinen SG, et al. Epidemiology of inclusion body myositis in the Netherlands: a nationwide study. Neurology 2000; 55:1385.
  2. Phillips BA, Zilko PJ, Mastaglia FL. Prevalence of sporadic inclusion body myositis in Western Australia. Muscle Nerve 2000; 23:970.
  3. Needham M, Corbett A, Day T, et al. Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis. J Clin Neurosci 2008; 15:1350.
  4. Wilson FC, Ytterberg SR, St Sauver JL, Reed AM. Epidemiology of sporadic inclusion body myositis and polymyositis in Olmsted County, Minnesota. J Rheumatol 2008; 35:445.
  5. Kaipiainen-Seppänen O, Aho K. Incidence of rare systemic rheumatic and connective tissue diseases in Finland. J Intern Med 1996; 240:81.
  6. Dimachkie MM, Barohn RJ. Inclusion body myositis. Neurol Clin 2014; 32:629.
  7. Benveniste O, Guiguet M, Freebody J, et al. Long-term observational study of sporadic inclusion body myositis. Brain 2011; 134:3176.
  8. Lloyd TE, Mammen AL, Amato AA, et al. Evaluation and construction of diagnostic criteria for inclusion body myositis. Neurology 2014; 83:426.
  9. Cox FM, Titulaer MJ, Sont JK, et al. A 12-year follow-up in sporadic inclusion body myositis: an end stage with major disabilities. Brain 2011; 134:3167.
  10. Amato AA, Gronseth GS, Jackson CE, et al. Inclusion body myositis: clinical and pathological boundaries. Ann Neurol 1996; 40:581.
  11. Beyenburg S, Zierz S, Jerusalem F. Inclusion body myositis: clinical and histopathological features of 36 patients. Clin Investig 1993; 71:351.
  12. Felice KJ, North WA. Inclusion body myositis in Connecticut: observations in 35 patients during an 8-year period. Medicine (Baltimore) 2001; 80:320.
  13. Wintzen AR, Bots GT, de Bakker HM, et al. Dysphagia in inclusion body myositis. J Neurol Neurosurg Psychiatry 1988; 51:1542.
  14. Riminton DS, Chambers ST, Parkin PJ, et al. Inclusion body myositis presenting solely as dysphagia. Neurology 1993; 43:1241.
  15. Lotz BP, Engel AG, Nishino H, et al. Inclusion body myositis. Observations in 40 patients. Brain 1989; 112 ( Pt 3):727.
  16. Koffman BM, Rugiero M, Dalakas MC. Immune-mediated conditions and antibodies associated with sporadic inclusion body myositis. Muscle Nerve 1998; 21:115.
  17. Vattemi G, Tonin P, Marini M, et al. Sarcoidosis and inclusion body myositis. Rheumatology (Oxford) 2008; 47:1433.
  18. Amato AA, Barohn RJ. Inclusion body myositis: old and new concepts. J Neurol Neurosurg Psychiatry 2009; 80:1186.
  19. Engel WK, Askanas V. Inclusion-body myositis: clinical, diagnostic, and pathologic aspects. Neurology 2006; 66:S20.
  20. Larman HB, Salajegheh M, Nazareno R, et al. Cytosolic 5'-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol 2013; 73:408.
  21. Pluk H, van Hoeve BJ, van Dooren SH, et al. Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis. Ann Neurol 2013; 73:397.
  22. Greenberg SA. Cytoplasmic 5'-nucleotidase autoantibodies in inclusion body myositis: Isotypes and diagnostic utility. Muscle Nerve 2014; 50:488.
  23. Lloyd TE, Christopher-Stine L, Pinal-Fernandez I, et al. Cytosolic 5'-Nucleotidase 1A As a Target of Circulating Autoantibodies in Autoimmune Diseases. Arthritis Care Res (Hoboken) 2016; 68:66.
  24. Herbert MK, Stammen-Vogelzangs J, Verbeek MM, et al. Disease specificity of autoantibodies to cytosolic 5'-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases. Ann Rheum Dis 2016; 75:696.
  25. http://neuromuscular.wustl.edu/over/labdis.html (Accessed on October 01, 2015).
  26. Uruha A, Noguchi S, Hayashi YK, et al. Hepatitis C virus infection in inclusion body myositis: A case-control study. Neurology 2016; 86:211.
  27. Dalakas MC, Schmidt J. Viruses in IBM: Hit-and-run, hide and persist, or irrelevant? Neurology 2016; 86:204.
  28. Kula RW, Sawchak JA, Sher JH. Inclusion body myositis. Curr Opin Rheumatol 1989; 1:460.
  29. Sayers ME, Chou SM, Calabrese LH. Inclusion body myositis: analysis of 32 cases. J Rheumatol 1992; 19:1385.
  30. 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.
  31. Cox FM, Reijnierse M, van Rijswijk CS, et al. Magnetic resonance imaging of skeletal muscles in sporadic inclusion body myositis. Rheumatology (Oxford) 2011; 50:1153.
  32. Tasca G, Monforte M, De Fino C, et al. Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis. Muscle Nerve 2015; 52:956.
  33. Engel AG, Arahata K. Monoclonal antibody analysis of mononuclear cells in myopathies. II: Phenotypes of autoinvasive cells in polymyositis and inclusion body myositis. Ann Neurol 1984; 16:209.
  34. Lindgren U, Roos S, Hedberg Oldfors C, et al. Mitochondrial pathology in inclusion body myositis. Neuromuscul Disord 2015; 25:281.
  35. Mendell JR, Sahenk Z, Gales T, Paul L. Amyloid filaments in inclusion body myositis. Novel findings provide insight into nature of filaments. Arch Neurol 1991; 48:1229.
  36. Salajegheh M, Pinkus JL, Taylor JP, et al. Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis. Muscle Nerve 2009; 40:19.
  37. Hiniker A, Daniels BH, Lee HS, Margeta M. Comparative utility of LC3, p62 and TDP-43 immunohistochemistry in differentiation of inclusion body myositis from polymyositis and related inflammatory myopathies. Acta Neuropathol Commun 2013; 1:29.
  38. Brady S, Squier W, Sewry C, et al. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open 2014; 4:e004552.
  39. Griggs RC, Askanas V, DiMauro S, et al. Inclusion body myositis and myopathies. Ann Neurol 1995; 38:705.
  40. Calabrese LH, Mitsumoto H, Chou SM. Inclusion body myositis presenting as treatment-resistant polymyositis. Arthritis Rheum 1987; 30:397.
  41. Needham M, Mastaglia FL. Inclusion body myositis: current pathogenetic concepts and diagnostic and therapeutic approaches. Lancet Neurol 2007; 6:620.
  42. Dalakas MC. Sporadic inclusion body myositis--diagnosis, pathogenesis and therapeutic strategies. Nat Clin Pract Neurol 2006; 2:437.
  43. Rose MR, ENMC IBM Working Group. 188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands. Neuromuscul Disord 2013; 23:1044.
  44. van der Meulen MF, Bronner IM, Hoogendijk JE, et al. Polymyositis: an overdiagnosed entity. Neurology 2003; 61:316.
  45. Askanas V. New developments in hereditary inclusion body myopathies. Ann Neurol 1997; 41:421.
  46. Ranque-Francois B, Maisonobe T, Dion E, et al. Familial inflammatory inclusion body myositis. Ann Rheum Dis 2005; 64:634.
  47. Nishino I, Noguchi S, Murayama K, et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy. Neurology 2002; 59:1689.
  48. Eisenberg I, Avidan N, Potikha T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001; 29:83.
  49. Yabe I, Higashi T, Kikuchi S, et al. GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology 2003; 61:384.
  50. Taylor JP. Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration. Neurology 2015; 85:658.
  51. Kimonis VE, Kovach MJ, Waggoner B, et al. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med 2000; 2:232.
  52. Watts GD, Wymer J, Kovach MJ, et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004; 36:377.
  53. Hokkoku K, Sonoo M, Higashihara M, et al. Electromyographs of the flexor digitorum profundus muscle are useful for the diagnosis of inclusion body myositis. Muscle Nerve 2012; 46:181.