[Diagnosis and care of Charcot-Marie-Tooth disease]

Charcot-Marie-Tooth disease (CMT) is the most common form of inherited peripheral neuropathy and the prevalence rate is about 10/100,000 population in Japan. Next-generation sequencing techniques discovered more than 50 genes for CMT. Genetic diagnosis of CMT with genetic counseling is critical to speculate the prognosis, complications and therapeutic research development. Surgical therapy, rehabilitation, casting therapy, and weight control are useful to keep health-related quality of life for CMT. Although the disease-modifying therapy for CMT is not available now, new clinical trials to improve QOL are now on going. CMT research groups, which consist of researchers and CMT patient association, are organized in Japan with support of Grants-in-Aid from the Ministry of Health, Labour and Welfare of Japan. It is the most important to listen to what afflicted patients may want to share with medical doctors.