Results of 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 cases. Although 95% of mothers are affected by DM1, approximately 60% are given the DM1 diagnosis after delivery. Therefore, mothers with DM1 often experience severe complications without any prior planning for such risks. We herein present the results of a large survey intended for birthing facilities registered by the “Japan Society of Obstetrics and Gynecology”, pediatric neurologists registered by the “The Japanese Society of Child Neurology”, and NICU delegates registered by the “Japanese Neonatologist Association”.


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