Clinical, pathological and genetic findings and complications in pediatric patients with muscular dystrophy

Aim: In this retrospective study, it was aimed to determine the clinical, genetic, pathological findings and complications in the patients between the ages of 0-18, who were followed up between 2005 and 2020 with a definitive diagnosis of muscular dystrophy (DMD/BMD, LGMD, KMD, FSHD and myotonic dystrophy) in the Department of Pediatric Neurology, had sufficient data and were followed up regularly. Material and Methods: Patients between the ages of 0-18, who were admitted to the Cukurova University Faculty of Medicine Balcalı Hospital Pediatric Neurology Outpatient Clinic between 2005-2020 were followed-up, with genetic and/or pathological diagnosis of muscular dystrophy, phenotypically MD findings, regular follow-up, and had sufficient data were included in the study. Information was obtained from patient files. Laboratory findings during the clinical follow-up of the patients were recorded retrospectively. In addition, complications of disease and development ages due to the disease were determined during the follow-up of the patients. Statistical studies were carried out on the obtained data, and the results were discussed for the purpose. Results: Of our 158 patients, 54% were diagnosed with dystrophinopathy, 20% with CMD, 21% with LGMD, 1.8% with FSHD, and 1.8% with DM. The M/F ratio of the patients was 115/43. There was family history in 51%, consanguinity between parents in 56%. Of the patiens the mean age of our patients was 13.11±5.64(1.5-31) years. Perinatal complications were seen in 18 patients (10 BMD, 6 DMD, 2 FSHD). The mean age of first finding was 36 months in DMD patients, 18 months in CMD patients, 87 months in LGMD patients, 25 months in FSHD patients, and 120 months in DM patients. Abnormal echocardiogram findings was detected in 30 of our patients (22%). Respiratory system involvement was present in 59 (37%) patients. A total of 17 patients were found to need non-invasive mechanical ventilators. Most of them were patients followed up with a diagnosis of DMD. Of our 158 patients included in the study; 70 patients were diagnosed with genetic, 35 patients with muscle biopsy, 53 patients with both genetic and biopsy findings. There were feeding problems in 10 of our patients (8 KMD, 2 DMD). Epilepsy was present only in 1 DM and 2 DMD patients. MR was detected in 11 patients with dystrophinopathy, 11 CMD patients and 2 LGMD patients. Conclusion: Muscular dystrophies may have clinical and genetic heterogene among societies, geographical regions and ethnic groups, and these heterogeneities may make a difference in the follow-up of patients. Therefore, clinics need to know the variables of their own patient populations. The incidence of respiratory, cardiac, gastrointestinal, orthopedic and psychiatric complications increases with advancing age. Therefore, these patients should be followed up with a multidisciplinary approach at regular intervals for a long time. Key words: childhood, histopathological study, genetic study, clinical findings, complications, muscular dystrophy