The effects of a practical guideline on medical management of patients with Duchenne muscular dystrophy

Abstract

We conducted questionnaire surveys of Japanese certified Neurologists and Child Neurologists (CN) before and four years after the publication of the Japanese practical guideline for Duchenne muscular dystrophy (DMD-GL), published in 2014. After the publication, the number of responders who did not require expert support to treat new DMD patients increased from 33% to 37%. In addition, DMD-GL was listed as a preferred information source by 86% of specialists practicing DMD. Although there was no significant difference, CN has become more active in steroid therapy (Fig. 1), rehabilitation, and management of scoliosis. The ratio of introduction of non-invasive ventilation and mechanical assisted cough was significantly increased for respiratory care (Fig. 2). Nevertheless, the implementation rate for disaster countermeasure was rather declined. As for the myocardial treatment, specialists using ACEI preferentially increased while diuretics and digitalis decreased. There was no change in beta-blockers. Regarding nutritional management, the response to wait for the explanation of gastrostomy until the advanced stage decreased, and the response to recommend it early increased (Fig. 3). About medical care of carriers, around 40% of specialists responded that they did not have carriers requiring medical assessments. Excluding them, there was a tendency for the rate of cardiopulmonary assessment to increase. In rare disease such as DMD, it is difficult even for specialists to have sufficient experience. In this survey, we could confirm that DMD-GL became an essential tool in best practicable care. Based on the results, we wish to use it for DMD-GL revision and future activities.