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Myopathy in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Mitsuru Watanabe1, Hirofumi Ochi, Hajime Arahata
1Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan.
Muscle & Nerve
|May 15, 2012
Summary
Progressive myopathy may be an unrecognized symptom of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED). This study investigated AIRE gene mutations and muscle involvement in APECED patients.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) is a rare genetic disorder.
- Mutations in the autoimmune regulator (AIRE) gene cause APECED.
- Muscle involvement in APECED has not been previously studied.
Observation:
- A 52-year-old woman with APECED presented with progressive myopathy.
- Muscle biopsy revealed myopathic changes without inflammation.
- AIRE gene expression was detected in muscle tissue.
Findings:
- Progressive myopathy is a potential manifestation of APECED.
- AIRE gene mutations may contribute to muscle pathology.
- Literature review identified 5 similar APECED cases with myopathy.
Implications:
- This finding expands the known clinical spectrum of APECED.
- Further research is needed to understand the mechanism of myopathy in APECED.
- Early identification of myopathy could improve patient management.
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