G.P.105 Main symptoms at onset and chief complaints at the first visit to clinic of myotonic dystrophy

Abstract Myotonic dystrophy (DM) is an autosomal dominant disorder with dysfunction of multiple systems. Concurrent features of skeletal muscles, myotonia and weakness, do not make difficulties with DM patients in early and mild stage, and progress slowly. Consequently, the diagnosis of DM in the early stage is difficult and tends to delay. We analyzed main symptoms at onset and chief complaints at the first visit to clinic from the medical records of 67 our patients with DM (41 males, 26 females). Mean age of their onset was 27.2 ± 14.1. The main symptoms at onset were; weakness, 40; myotonia, 17; mental retardation, 8; dysarthria, 1; lumbago, 1. Mean interval from onset to their first visit to neurological clinics about DM was 11.6 ± 9.9 years. The chief complaints at the first visit to clinics were; weakness, 44; myotonia, 7; dysarthria, 2; lumbago, 2; genetic counseling, 2; apathy, 1; syncope, 1; no complaint, 8. Among 17 patients onset with myotonia, only 7 were with also myotonia as the chief complaint at the first visit to clinic. Among 40 patients onset with weakness, 33 were with weakness as the chief complaint at the first visit to clinic. Myotonia is a characteristic and important sign for DM, which provides early diagnosis. In contrast, myotonia is less likely to be a reason for consultation to medical doctor, suggesting that patients with DM are suffering more with weakness than with myotonia.