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Myopathy in autoimmune polyendocrinopathy‐ candidiasis‐ectodermal dystrophy
Author(s) -
Watanabe Mitsuru,
Ochi Hirofumi,
Arahata Hajime,
Matsuo Tomohito,
Nagafuchi Seiho,
Ohyagi Yasumasa,
Kira JunIchi
Publication year - 2012
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23321
Subject(s) - myopathy , muscle biopsy , medicine , muscular dystrophy , inflammatory myopathy , autoimmune regulator , pathology , biopsy , autoimmune disease , disease
Abstract Introduction : Autoimmune polyendocrinopathy‐candidiasis‐ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by monogenic mutations in the autoimmune regulator (AIRE ) gene. No attention has been paid to muscle manifestations in this disorder. We aimed to uncover whether progressive myopathy is a component of this disorder. Methods : A case description and literature search for APECED cases presenting with myopathy and analysis of AIRE gene expression in biopsied muscles from 4 healthy volunteers and the patient by reverse transcriptase polymerase chain reaction. Results : A 52‐year‐old woman with APECED caused by AIRE gene mutations developed progressive myopathy involving proximal limb and paraspinal muscles. Muscle biopsy specimens showed myopathic changes without inflammatory cell infiltrate. We detected AIRE gene expression in all muscle tissues examined. An extensive literature search uncovered 5 cases of APECED with myopathy, all of whom had similar features. Conclusions : Progressive myopathy involvement could be a hitherto unknown manifestation of APECED. Muscle Nerve 45: 904‐908, 2012