Distrofinopati Hastalarının Demografik, Klinik ve Genetik Özellikleri: Tek Merkez Üçüncü Basamak Deneyimi

Authors : Elif Acar ARSLAN, Ali CANSU

Pages : 289-297

View : 27 | Download : 9

Publication Date : 2020-06-01

Article Type : Research Paper

Abstract :Purpose: Duchenne muscular dystrophy DMD is a common X-linked muscular dystrophy characterized by weakness starting in the proximal muscles of the lower extremity. Follow-up of predicted complications and corticosteroid therapy are important in terms of improving quality of life, prolonging survival, treatment, and prenatal diagnosis and genetic counseling should be administered to the families. Our aim was to present the clinical, laboratory and genetic spectrum of patients presenting to our center.Patients and Methods: Patients aged 0–18, diagnosed with DMD or Becker muscular dystrophy BMD , confirmed genetically between January 2013 and January 2018 and admitted to the pediatric neurology policlinic, were examined retrospectively. Data were obtained for demographic characteristics, laboratory findings, neurological examinations, and other investigations genetic evaluation, and organ dysfunction , and multidisciplinary approaches to pathologies expected to accompany the disease.Results: The data for 24 patients who met the inclusion criteria were recorded. The mean age of the patients was 89 ±59.75 months. The mean age at onset of symptoms was 34.50 ±16.1 months , and the mean age at diagnosis was 43.08 ±29.83 months. The main symptoms were delay in starting walking, toe-walking, pseudohypertrophy, fatigue, and weakness climbing stairs. Five patients 20.8% exhibited asymptomatic creatine kinase elevation on laboratory examination due to upper respiratory tract infection. Electromyography was performed on 7 patients, only 3 of whom were compatible with myopathy, the remainder were evaluated as normal. The most frequent deletion sites were exons 46, 47 and 51. Although the patients’ age groups had limited homogeneity, patients with deletions in exons 46, and 47 had lower gross motor function scores.Conclusion: A multidisciplinary approach is very important in terms of quality of life. In particular, the effective screening of mutations is important in terms of offering the patient new therapeutic options
Keywords : Child, Duchenne muscular dystrophy, Becker muscular dystrophy