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Título

ANALYSIS OF THE GENETIC AND EPIDEMIOLOGICAL PROFILE OF PATIENTS WITH LIMB-GIRDLE MUSCULAR DYSTROPHY IN REFERENCE CENTERS FROM PERNAMBUCO

Resumo

Introduction: Limb-girdle muscular dystrophies (LGMD) are the fourth leading cause of genetically generated muscle weakness. LGMDs form a heterogeneous group of diseases, which includes hereditary pathologies that preferentially affect the proximal muscles of the pelvic and scapular girdle. There are currently 29 subtypes, the vast majority of which are autosomal recessive. As it is a rare pathology, prevalence data are limited. There is a lack of studies that evaluate the epidemiological and genetic profile of LGMDs in the Brazilian northeast region.
Objective: Evaluate the epidemiological and genetic aspects of patients with suspected limb-girdle muscular dystrophy who underwent a molecular panel at two referral centers in Pernambuco. Methods: This is a cross-sectional observational study. Data were collected from the medical records of patients treated in two centers from Pernambuco. Demographic data such as age, gender and origin were analyzed, as well as the results of the molecular panels performed by the patients. Results: Information was collected from the medical records of 37 patients, 17 had their diagnosis confirmed, the majority being sarcoglycanopathies (70.6%), especially alpha-sarcoglycanopathy with 35.5% of all LGMD subtypes found. The distribution by age and sex was similar in the group of 17 patients diagnosed with LGMD, with a higher prevalence of alpha-sarcoglycanopathy among those younger than 18 years (66.7%), with a higher number of women in this subtype (88.3%) being also observed. The origin of 14 of the 17 diagnosed patients was found, the majority (four) were from Recife-PE. All patients underwent a molecular panel, a total of 52 different mutations were observed, being 53.8% pathogenic variants, 17.3% probably pathogenic variants and 28.8% variants of uncertain significance (VUS). Regarding the pathogenic and probably pathogenic variants, most were found in the SGCA gene and in CAPN3. The most common mutation was c.229C>T in the SGCA gene (61.5% of the variants in this gene). Among the VUS, most corresponded to DYSF gene mutations with 33.3%, followed by FKRP and CAPN3 with 20% each. Conclusion: Despite presenting a small population sample, the study presented relevant data on the genetic and epidemiological profile of LGMDs in Pernambuco. The results presented can promote studies, in addition to strengthening general population and professional health knowledge.

Palavras Chave

Limb-girdle muscular dystrophy, myopathy, neuromuscular diseases, epidemiology, genetics