[Myopathy with trabecular fibers associated with familiar autoimmune polyglandular syndrome type 1]. / Miopatía con fibras trabeculares asociada a síndrome poliglandular autoinmune tipo 1 familiar.

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.

Miopatía con fibras trabeculares asociada a síndrome poliglandular autoinmune tipo 1 familiar / Myopathy with trabecular fibers associated with familiar autoinmune polyglandular syndrome type 1

En este trabajo se presenta la asociación de distrofia muscular de cinturas con síndrome poliglandular autoinmune tipo 1 (SPA 1) en tres hermanas, hijas de padres consanguíneos. En las tres pacientes, el SPA 1 estuvo constituido por hipoparatiroidismo, insuficiencia suprarrenal, hipogonadismo primario y candidiasis mucocutánea. La biopsia muscular en una paciente reveló el 40 % de fibras trabeculares, sugiriendo el diagnóstico de miopatía con fibras trabeculares (MFT). Otras manifestaciones fueron calcificaciones intracraneales en la segunda paciente, epilepsia y múltiples componentes adicionales de SPA 1 en la tercera, y cataratas en estas dos. En este estudio se revisan las características clínicas y los mecanismos hereditarios del SPA 1 y la MFT. Mientras que el SPA 1 se transmite con herencia autosómico recesiva por mutaciones en el gen AIRE, localizado en 21q22.3, no se conoce la transmisión genética de la MFT hereditaria. Mutaciones en el gen CRYAA, ubicado en el mismo locus que AIRE, pueden transmitir cataratas con herencia recesiva. Se propone en consecuencia que la asociación de MFT con el SPA 1 en estas tres pacientes fuera transmitida por ligamiento de genes contiguos, que debería incluir el gen AIRE. La participación adicional del gen CRYAA en dos casos apoyaría esta hipótesis por su proximidad con el gen AIRE. Se descarta que estos casos de distrofia muscular estén transmitidos por los genes COL6A 1 y COL6A2, causantes de miopatía y situados en 21 q22.3, en base a criterios clínicos. Se pretende, en suma, destacar la asociación entre SPA 1 y distrofia muscular de cinturas por haber sido muy raramente mencionada en la literatura neurológica

An association between limb-girdle muscular dystrophy and autoimmune polyglandular syndrome type 1 (APS 1), in three sisters born to consanguineous parents, is presented. The components of APS 1 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 minar components of APS1, in the third; cataracts were found in the last two patients. The clinical manifestations and inheritance of MTF and APS 1 are reviewed. While recessive mutations in the AIRE gene (21q22.3) cause APS 1, genetic transmission of hereditary MTF has not been investigated in depth. Mutations in CRY AA, 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 far 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