172PClinical and genetic characteristics of adult patients with Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a severe rare X linked progressive inherited muscular disorder, leading to a premature loss of ambulation and mortality. The aim of this study was to examine the clinical and genetic characteristics of adult patients with DMD, followed at the national tertiary neuromuscular centre. Seventeen patients, aged 27 (1st – 3rd quartile: 20-32, range: 19-37) years had genetically confirmed DMD, mostly caused by deletions (53%), followed by point mutations (35%), and duplications (11%) in DMD. All patients were wheelchair-bound. They got the first wheelchair at the age of 10 (SD 3) years. The median of vital capacity was 11 % of predicted values (1st – 3rd quartile: 8-34). 15/17 (88%) patients used mechanical ventilation, the mean age at the start of non-invasive ventilation usage was 21 (SD 5) years. 16/17 (94%) used cough-machine. Body mass index was 22,9 (SD 6,8, range: 9,9 – 37,5). Most of the patients (59%) were unable to feed themselves, they lost their ability to feed themselves at the age of 20 (SD 8, range 10-36) years. One patient had from 23 years of age radiologically inserted gastrostomy. Four patients (24%) had dilatative cardiomyopathy and arrhythmia. Four patients (24%) were still on daily oral prednisolone. Eight (47%) of them had operation of Achill tendons. 13/17 (76%) were unemployed, 4/17 (24%) were students. On Satisfaction with life scale they reached 24 (SD 6, range: 12-33) points. In conclusion, this analysis of adults living with DMD highlights the significant clinical burden and complex care needs associated with advanced disease stages, emphasizing the importance of multidisciplinary management and ongoing support in this population.