The genetic profile of childhood neuromuscular disorders: A single center experience

Abstract

Neuromuscular Diseases are a heterogeneous group of childhood disorders, and differential diagnosis can be challenging. Although there is no definitive treatment for the most of this group of diseases, early diagnosis is important with the development of new treatment methods. In this study, we aimed to draw attention to the importance of new generation genetic tests in diagnosing neuromuscular diseases. In this retrospective study, we reviewed the records of 800 patients with suspected neuromuscular diseases followed in the Neuromuscular Clinic of Marmara University Pendik Training and Research Hospital between December 2011 and January 2023 according to their demographic, clinical and genetic characteristics. Patients who were diagnosed with Duchenne muscular dystrophy and spinal muscular atrophy with targeted gene testing were excluded from the study. The results of targeted gene testing, clinical exome sequencing (CES), whole exome sequencing (WES) and mitochondrial genome analysis were analysed.