[P3-128] A Japanese nationwide survey on congenital myotonic dystrophy
In Japan, 99% of patients with Myotonic Dystrophy (DM) are classified as having type 1 (DM1), and congenital Myotonic Dystrophy (CDM) has been reported only in DM1. Although 95% of mothers are affected by DM1 and many show characteristic signs during pregnancy, approximately 60% are given the DM1 diagnosis after delivery. It is important to ascertain the actual incidence and perinatal complications in both DM1 mothers and CDM babies. We herein present the results of a large survey of obstetricians, neonatologists and pediatric neurologists. As primary research, we conducted a national survey in written questionnaire form. To achieve an exhaustive survey, we sent the questionnaire to 2,480 birthing facilities registered by the “Japan Society of Obstetrics and Gynecology”, 1,126 pediatric neurologists registered by the “The Japanese Society of Child Neurology”, and 274 NICU delegates registered by the “Japanese Neonatologist Association”. In the questionnaire for obstetricians, we asked when the mothers affected by DM1 received their own diagnosis. For the neonatologists and pediatricians, we asked the number of patients with CDM, and whether or not the delivery had served as the mother's opportunity to be diagnosed with DM1. We obtained valid answers from 1, 405 birthing facilities (the collection rate was 26.6%), 612 pediatric neurologists (54.4%), and 73 neonatologists (56.7%). For these respondents who answered as having their cases with DM1 or CDM, we made a secondary survey. This study will provide more detailed information on the perinatal problems of both DM1 mothers and CDM babies in Japan.