[Myopathy with trabecular fibers associated with familiar autoimmune polyglandular syndrome type 1]

An association between limb-girdle muscular dystrophy and autoimmune polyglandular syndrome type 1 (APS1), in three sisters born to consanguineous parents, is presented. The components of APS1 in these patients were hypoparathyroidism, autoimmune adrenal insufficiency, primary hypogonadism and mucocutaneous candidiasis. A muscle biopsy performed on the first patient showed over 40 % of trabeculated fibers, suggesting the diagnosis of myopathy with trabeculated fibers (MTF). Intracranial calcification was found in the second patient; and epilepsy, and several other minor components of APS1, in the third; cataracts were found in the last two patients. The clinical manifestations and inheritance of MTF and APS1 are reviewed. While recessive mutations in the AIRE gene (21q22.3) cause APS1, genetic transmission of hereditary MTF has not been investigated in depth. Mutations in CRYAA, a gene that shares the same locus as AIRE, may cause recessive inheritance of cataracts. Thus, the proposal of this article is that linkage of contiguous genes that includes the AIRE gene, might be responsible for the association of both diseases in these three patients. Additional involvement of CRYAA, that possibly causes cataracts in two of the patients, might support this hypothesis, due to the proximity of this gene to AIRE. The genes COL6A1 and COL6A2, localized in 21q22.3, are discarded as transmitters of MTF in these cases, on clinical criteria. The authors wish to draw attention to the association between limb-girdle muscular dystrophy and APS1, since it has been very rarely reported in the medical literature.