Genetic and clinical spectrum of Charcot-Marie-Tooth disease in Turkey

Abstract

Objective: Charcot-Marie-Tooth (CMT) disease is one of the most common inherited diseases of the peripheral nervous system. Over the past two decades, there have been rapid advances in understanding the molecular basis of CMT with more than 100 causal genes detected. Due to genotypic and phenotypic heterogeneity, disease course is variable. This study aims to evaluate CMT patients clinically and genetically. Method: The files of the cases diagnosed with CMT and followed up in the our horpital were scanned. The clinical and genetic information of the patients included in the study was recorded in the forms prepared within the scope of the study. Clinical and genetic information of patients were evaluated. Results: 19 patients diagnosed with Charcot-Marie-Tooth who met our study criteria were included in the study. Of our patients, 10 (52.6%) were girls and 9 (47.4%) were boys. The age of our patients was between 108 and 216 months, average 160 months. The initial complaint in 16 (%84,2) patients was walking disorder and it was the most common complaint. Two patients (10.5%) had poor head retention, 1 patient (5.3%) had respiratory distress, one patient (5.3%) had dropped foot, and one patient (5.3%) had low back pain. The mutation in the PMP22 gene detected in 8’ (42.1%) of 19 patients. SH3TC2 gene, mutation was found in 3 (15.8%) of the patients and GDAP1 gene was found in 2 (%10.5) of the patients. Conclusion: It is very important to diagnose diseases that cause socioeconomic disadvantage, such as CMT disease, early. Suggestions and activities to reduce consanguineous marriages are very valuable for our country in reducing the prevalence of this disease and similar diseases. The fact that there are very few studies on CMT disease in our country suggests that the significance and value of our study increases.