Muscle inflammation, autoimmune Addison's disease and sarcoidosis in a patient with dysferlin deficiency

Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and wi...

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Published inNeuromuscular disorders : NMD Vol. 16; no. 3; pp. 208 - 209
Main Authors Selva-O'Callaghan, Albert, Labrador-Horrillo, Moises, Gallardo, Eduard, Herruzo, Angel, Grau-Junyent, Josep M a, Vilardell-Tarres, Miquel
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.03.2006
Subjects
Addison Disease - etiology
Addison's disease
Adult
Autoimmunity
Dysferlin
Humans
Male
Membrane Proteins - deficiency
Muscle Proteins - deficiency
Muscular Dystrophies, Limb-Girdle - complications
Muscular Dystrophies, Limb-Girdle - diagnosis
Myositis - etiology
Polymyositis
Sarcoidosis
Sarcoidosis - etiology
Autoimmunity
Polymyositis
Sarcoidosis
Addison's disease
Dysferlin
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ISSN0960-8966
1873-2364
DOI10.1016/j.nmd.2006.01.005

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Summary:Idiopathic inflammatory myopathies are a group of acquired, heterogeneous, systemic diseases commonly regarded as autoimmune disorders. Differential diagnosis includes muscular dystrophies, especially the dysferlin-deficiency myopathy. We report a case of a patient diagnosed with polymyositis and with associated autoimmune diseases that finally turned out to be a dysferlin deficiency (limb girdle muscular dystrophy type 2B). A possible link between dysferlin deficiency an autoimmunity is discussed.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2006.01.005