Limb-girdle muscle dystrophy as a novel rare component of autoimmune polyglandular syndrome type 1

At the age of 3 years, the patient was diagnosed with chronic mucocutaneous candidiasis and at the age of 40 he developed autoimmune alopecia. At the age of 43, the patient began to complain of gradually progressive muscle weakness. At the age of 49, primary adrenal insufficiency and hypoparathyroidism were verified. Molecular genetic analysis revealed a mutation c.769C>T p.R257X in the AIRE gene, confirming the presence of autoimmune polyglandular syndrome type 1. Despite long-time stable compensation of adrenal insufficiency and hypoparathyroidism, the patient continued to experience progressive muscle weakness, leading to significant difficulties in walking and an inability to hold his head in an upright position. Based on the results of an extensive neurological examination and whole-genome sequencing, no hereditary myopathies were identified. Tests for myositis-specific antibodies were negative. An attempt to prescribe immunosuppressive treatment was unsuccessful.

Thus, we report progressive limb-girdle myopathy as one of the rare manifestations of APS-1, not associated with autoimmune damage to muscle tissue.

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