Charcot–Marie–Tooth disease: Genetics, epidemiology and complications

Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is ۱ in ۲۵۰۰. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this work it was aimed to provide a review on the genetic and epidemiologic aspects of this disease. Methods: In the current review article, we performed a literature search on the epidemiology of Charcot–Marie–Tooth disease” and provided a brief review on epidemiology, genetic, and complications of CMT. Databases Web of Science and PubMed were searched using the Endnote software for the publications on CMT during ۲۰۰۰ to ۲۰۱۶. Results: Charcot Marie Tooth disease has different prevalence around the world and is the most common neuropathy. Epidemiological studies have estimated the prevalence of CMT in Japan ۱/۹۲۰۰, in Iceland ۱/۸۳۰۰, in Spain ۱/۳۵۰۰ and in Italy ۱/۵۷۰۰.The patients have different phenotype and the age of onset. There is a variety of inherited patterns of disease and many genes have been identified responsible whose mutations are main cause of the disease. Conclusion: Due to the impact of this kind of disabilities on the national health, further studies seem to be necessary to gain better knowledge of the disease particularly in the regions with higher prevalence. Moreover molecular biology services offered by genetic laboratories can reduce the incidence of disorder.

Keywords:

Charcot Marie Tooth , Neuropathy , Electrophysiology , Epidemiology