Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region

Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with LGMD in the Çukurova region and to identify disease subgroups. This study aimed to identify disease subgroups in the Çukurova region through a retrospective review of patients with LGMD, given differences in clinical indicators that can be used for early diagnosis and disease course as well as regional variations. Frequency and descriptive analyses were performed using SPSS 21 for Windows (IBM Corp., Armonk, NY, USA). The most common type identified at our center was LGMD2A-R1 (51.6%). The other types were LGMD2F-R6, LGMD2D-R3 and LGMD2C-R5, in order of frequency. Among these subtypes, the earliest age of onset and diagnosis as well as the highest creatine kinase values, were observed in the LGMD2C-R5 group. Respiratory failure was notably frequent in patients with LGMD2F-R6. Early ambulation loss was detected in patients with LGMD2F-R6 and LGMD2D-R3. Muscle biopsy was performed on 9 of the 16 patients with calpainopathy and 12 of the 15 patients with sarcoglycanopathy. The diagnosis of LGMD was confirmed by genetic testing in 25 of 31 patients. Previously unidentified 3 new mutations were detected in 4 patients. Early diagnosis and determination of LGMD subgroups are important for the investigation of targeted treatment options and the provision of genetic counseling in the future.