Inflammatory myopathies, autoimmune necrotizing myopathies and adult-onset genetic myopathies: Differential diagnosis.;Myopathies inflammatoires, myopathies nécrosantes auto-immunes, myopathies génétiques de l'adulte: Frontières diagnostiques

Revue de Medecine Interne

Volumn 33, Issue 3, 2012, Pages 134-142

  Dimitri, D ^a   Eymard, B ^b  

^a HENRI MONDOR HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Autoimmune necrotizing myopathy; Dysferlinopathy; Inflammatory myopathies; Late onset nemaline myopathy; Muscular dystrophies

Indexed keywords

AUTOIMMUNE NECROTIZING MYOPATHY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DYSFERLINOPATHY; GENETIC MYOPATHY; HISTOPATHOLOGY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCULAR DYSTROPHY; MYOPATHY; MYOSITIS; ONSET AGE; SHORT SURVEY;

ADULT; AGE OF ONSET; AUTOIMMUNE DISEASES; DIAGNOSIS, DIFFERENTIAL; HUMANS; IATROGENIC DISEASE; MUSCLES; MUSCULAR DISEASES; MYOSITIS; NECROSIS; PHARMACEUTICAL PREPARATIONS; POLYMYOSITIS;

EID: 84857443033     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2011.11.018     Document Type: Short Survey

References (61)

1. Bohan A., Peter J.B. Polymyositis and dermatomyositis (first of two parts). N Engl J Med 1975, 292:344-347.
2. Griggs R.C., Askanas V., DiMauro S., Engel A., Karpati G., Mendell J.R., et al. Inclusion body myositis and myopathies. Ann Neurol 1995, 38:705-713.
3. Hoogendijk J.E., Amato A.A., Lecky B.R., Choy E.H., Lundberg I.E., Rose M.R., et al. 119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis. 10-12 October 2003, Naarden, The Netherlands. Neuromuscul Disord 2004, 14:337-345.
4. Troyanov Y., Targoff I.N., Tremblay J.L., Goulet J.R., Raymond Y., Senecal J.L. 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.
5. Eymard B. Orientation diagnostique devant un déficit myopathique de l'adulte. Rev Prat 2008, 58:2229-2243.
6. Eymard B. Polymyosite, dermatomyosite, myosite à inclusions, aspects nosologiques. Presse Med 2003, 32:1656-1667.
7. Dimitri D. Myopathies inflammatoires: diagnostic et classifications. Presse Med 2009, 38:1141-1163.
8. Van der Pas J., Hengstman G.J., ter Laak H.J., Borm G.F., van Engelen B.G. Diagnostic value of MHC class I staining in idiopathic inflammatory myopathies. J Neurol Neurosurg Psychiatry 2004, 75:136-139.
9. Mastaglia F.L. What to do when the treatment does not work: polymyositis. Postgrad Med J 2008, 84:382-384.
10. Van der Meulen M.F., Bronner I.M., Hoogendijk J.E., Burger H., van Venrooij W.J., Voskuyl A.E., et al. Polymyositis: an overdiagnosed entity. Neurology 2003, 61:316-321.
11. Amato A., Griggs R.C. Unicorns, dragons, polymyositis, and other mythological beasts. Neurology 2003, 61:288-289.
12. Chahin N., Engel A.G. Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM. Neurology 2008, 70:418-424.
13. Engel W.K., Askanas V. Inclusion body myositis: clinical, diagnostic, and pathologic aspects. Neurology 2006, 66:S20-S29.
14. Blume G., Pestronk A., Frank B., Johns D.R. Polymyositis with cytochrome oxidase negative muscle fibres. Early quadriceps weakness and poor response to immunosuppressive therapy. Brain 1997, 120:39-45.
15. Larue S., Maisonobe T., Benveniste O., Chapelon-Abric C., Lidove O., Papo T., et al. Distal muscle involvement in granulomatous myositis can mimic inclusion body myositis. J Neurol Neurosurg Psychiatry 2011, 82:674-677.
16. Béhin A., Dubourg O., Laforêt P., Pêcheux C., Bernard R., Lévy N., et al. Myopathies distales avec mutations du gène GNE: à propos de quatre cas. Rev Neurol (Paris) 2008, 164:434-443.
17. Yabe I., Higashi T., Kikuchi S., Sasaki H., Fukazawa T., Yoshida K., et al. GNE mutations causing distal myopathy with rimmed vacuoles with inflammation. Neurology 2003, 61:384-386.
18. Stojkovic T., Hammouda el H., Richard P., López de Munain A., Ruiz-Martinez J., Camaño P., et al. Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Neuromuscul Disord 2009, 19:316-323.
19. Ranque-Francois B., Maisonobe T., Dion E., Piette J.C., Chauveheid M.P., Amoura Z., et al. Familial inflammatory inclusion body myositis. Ann Rheum Dis 2005, 64:634-637.
20. Pascuzzi R.M., Roos K.L., Phillips L.H. Granulomatous inflammatory myopathy associated with myasthenia gravis. A case report and review of the literature. Arch Neurol 1986, 43:621-623.
21. D'Arcy C.E., Ryan M.M., McLean C.A. Juvenile polymyositis or paediatric muscular dystrophy: a detailed re-analysis of 13 cases. Histopathology 2009, 55:452-462.
22. Levin M.I., Mozaffar M., Al Lozi M.T., Pestronk A. Paraneoplastic necrotizing myopathy: clinical and pathological features. Neurology 1998, 50:764-767.
23. Dimitri D., Andre C., Roucoules J., Hosseini H., Humbel R.L., Authier F.J. Myopathy associated with anti-signal recognition peptide antibodies: clinical heterogeneity contrasts with stereotyped histopathology. Muscle Nerve 2007, 35:389-395.
24. Suzuki S., Satoh T., Sato S., Otomo M., Hirayama Y., Sato H., et al. Clinical utility of anti-signal recognition particle antibody in the differential diagnosis of myopathies. Rheumatology (Oxford) 2008, 47:1539-1542.
25. Dalakas M.C. Toxic and drug-induced myopathies. J Neurol Neurosurg Psychiatry 2009, 80:832-838.
26. Echaniz-Laguna A., Mohr M., Tranchant C. Neuromuscular symptoms and elevated creatine kinase after statin withdrawal. N Engl J Med 2010, 362:564-565.
27. Tsivgoulis G., Spengos K., Karandreas N., Panas M., Kladi A., Manta P. Presymptomatic neuromuscular disorders disclosed following statin treatment. Arch Intern Med 2006, 166:1519-1524.
28. Voermans N.C., Lammens M., Wevers R.A., Hermus A.R., van Engelen B.G. Statin-disclosed acid maltase deficiency. J Intern Med 2005, 258:196-197.
29. Sailler L., Pereira C., Bagheri A., Uro-Coste E., Roussel B., Adoue D., et al. Increased exposure to statins in patients developing chronic muscle diseases: a 2-year retrospective study. Ann Rheum Dis 2008, 67:614-619.
30. Needham M., Fabian V., Knezevic W., Panegyres P., Zilko P., Mastaglia F.L. Progressive myopathy with up-regulation of MHC-I associated with statin therapy. Neuromuscul Disord 2007, 17:194-200.
31. Grable-Esposito P., Katzberg H.D., Greenberg S.A., Srinivasan J., Katz J., Amato A.A. Immune-mediated necrotizing myopathy associated with statins. Muscle Nerve 2010, 4:185-190.
32. Christopher-Stine L., Casciola-Rosen L.A., Hong G., Chung T., Corse A.M., Mammen A.L. A novel autoantibody recognizing 200-kd and 100-kd proteins is associated with an immune-mediated necrotizing myopathy. Arthritis Rheum 2010, 62:2757-2766.
33. Mammen A.L., Chung T., Christopher-Stine L., Rosen P., Rosen A., Doering K.R., et al. Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy. Arthritis Rheum 2011, 63:713-721.
34. Nguyen K., Bassez G., Krahn M., Bernard R., Laforêt P., Labelle V., et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007, 64:1176-1182.
35. Gallardo E., Rojas-García R., de Luna N., Pou A., Brown R.H., Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 2001, 57:2136-2138.
36. Confalonieri P., Oliva L., Andreetta F., Lorenzoni R., Dassi P., Mariani E., 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.
37. Arahata K., Ishihara T., Fukunaga H., Orimo S., Lee J.H., Goto K., et al. Inflammatory response in facioscapulohumeral muscular dystrophy (FSHD): immunocytochemical and genetic analyses. Muscle Nerve 1995, 2:S56-S66.
38. Tselikas L., Rodrigues E., Jammal M., Tiev K., Chayet C., Josselin-Mahr L., et al. Dystrophie musculaire de Becker à révélation tardive. à propos d'un nouveau patient et de 12 observations de la littérature. Rev Med Interne 2011, 32:181-186.
39. Hoogerwaard E.M., Bakker E., Ippel P.F., Oosterwijk J.C., Majoor-Krakauer D.F., Leschot N.J., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999, 353:2116-2119.
40. Krahn M., Lopez de Munain A., Streichenberger N., Bernard R., Pécheux C., Testard H., et al. CAPN3 mutations in patients with idiopathic eosinophilic myositis. Ann Neurol 2006, 59:905-911.
41. Amato A.A. Adults with eosinophilic myositis and calpain-3 mutations. Neurology 2008, 26(70):730-731.
42. Tieleman A.A., den Broeder A.A., van de Logt A.E., van Engelen B.G. Strong association between myotonic dystrophy type 2 and autoimmune diseases. J Neurol Neurosurg Psychiatry 2009, 80:1293-1295.
43. Bassez G., Chapoy E., Bastuji-Garin S., Radvanyi-Hoffman H., Authier F.J., Pellissier J.F., et al. Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy. J Neuropathol Exp Neurol 2008, 67:319-325.
44. Eymard B., Laforêt P. Myopathies métaboliques à l'âge adulte présentation et démarche diagnostique. Rev Med Interne 2001, 22:328s-337s.
45. Hagemans M.L., Winkel L.P., Van Doorn P.A., Hop W.J., Loonen M.C., Reuser A.J., et al. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 2005, 128:671-677.
46. Wokke J.H., Escolar D.M., Pestronk A., Jaffe K.M., Carter G.T., van den Berg L.H., et al. Clinical features of late-onset Pompe disease: a prospective cohort study. Muscle Nerve 2008, 38:1236-1245.
47. Pavic M., Petiot P., Streichenberger N., Dupond J.L., Drouet A., Flocard F., et al. Maladie de MacArdle diagnostiquée après 30ans: à propos de 12 cas. Rev Med Interne 2003, 24:716-720.
48. Maillart E., Acquaviva-Bourdain C., Rigal O., Brivet M., Jardel C., Lombès A., et al. Déficit multiple en acyl-CoA déshydrogénases: une cause traitable de lipidose musculaire d'origine génétique. Rev Neurol (Paris) 2010, 166:289-294.
49. Chahin N., Selcen D., Engel A.G. Sporadic late-onset nemaline myopathy. Neurology 2005, 65:1158-1164.
50. Eymard B., Brouet J.C., Collin H., Chevallay M., Bussel A., Fardeau M. Late-onset rod myopathy associated with monoclonal gammopathy. Neuromuscul Disord 1993, 3:557-560.
51. Benveniste O., Laforet P., Dubourg O., Solly S., Musset L., Choquet S., et al. Stem cell transplantation in a patient with late-onset nemaline myopathy and gammopathy. Neurology 2008, 71:531-532.
52. Voermans N.C., Minnema M., Lammens M., Schelhaas H.J., Kooi A.V., Lokhorst H.M., et al. Sporadic late-onset nemaline myopathy effectively treated by melphalan and stem cell transplant. Neurology 2008, 7:532-534.
53. Ryan M.M., Schnell C., Strickland C.D., Shield L.K., Morgan G., Iannaccone S.T., et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001, 50:312-320.
54. Agrawal P.B., Strickland C.D., Midgett C., Morales A., Newburger D.E., Poulos M.A., et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 2004, 56:86-96.
55. Dimitri D., Dubourg O., Maisonobe T., Fournier E., Ranque B., Laforêt P., et al. Distal inflammatory myopathy: unusual presentation of polymyositis or new entity?. Neuromuscul Disord 2008, 18:493-500.
56. Robberecht W., Theys P., Lammens M., Leenders J. Distal myopathy as the presenting manifestation of sarcoidosis. J Neurol Neurosurg Psychiatry 1995, 59:642-643.
57. Lutt J.R., Lim L.L., Phal P.M., Rosenbaum J.T. Orbital inflammatory disease. Semin Arthritis Rheum 2008, 37:207-222.
58. Serratrice G., Pouget J., Pellissier J.F. Bent spine syndrome. J Neurol Neurosurg Psychiatry 1996, 60:51-54.
59. Umapathi T., Chaudhry V., Cornblath D., Drachman D., Griffin J., Kuncl R. Head drop and camptocormia. J Neurol Neurosurg Psychiatry 2002, 73:1-7.
60. Laroche M., Cintas P. Bent spine syndrome (camptocormia): a retrospective study of 63 patients. Joint Bone Spine 2010, 77:593-596.
61. Tidball J.G., Wehling-Henricks M. Damage and inflammation in muscular dystrophy: potential implications and relationships with autoimmune myositis. Curr Opin Rheumatol 2005, 17:707-713.