Myopathy in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy

Mitsuru Watanabe, Hirofumi Ochi, Hajime Arahata, Tomohito Matsuo, Seiho Nagafuchi, Yasumasa Ohyagi, Jun Ichi Kira

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)904-908
Number of pages5
JournalMuscle and Nerve
Issue number6
Publication statusPublished - Jun 2012

All Science Journal Classification (ASJC) codes

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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