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 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.
Selva-O'Callaghan
Albert
A
Internal Medicine Department Hospital General Vall, d'Hebron, Universitat Autonoma, Barcelona, Spain. aselva@vhebron.net
Labrador-Horrillo
Moises
M
Gallardo
Eduard
E
Herruzo
Angel
A
Grau-Junyent
Josep Ma
JM
Vilardell-Tarres
Miquel
M
D000224:Addison Disease / Q000209:etiology*; D000328:Adult; D000073939:Dysferlin; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency*; D009124:Muscle Proteins / Q000172:deficiency*; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000175:diagnosis*; D009220:Myositis / Q000209:etiology*; D012507:Sarcoidosis / Q000209:etiology*
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins