DMD Outcomes in Relation to Ethnicity and Socioeconomic Status

Duchenne muscular dystrophy (DMD) is a progressive, life-limiting condition affecting muscles. A genetic condition almost exclusively affecting males, it is caused by mutations ('mistakes') in the dystrophin gene which results in a lack of dystrophin, a protein crucial for normal muscle function. Lack of dystrophin leads to progressive muscle weakness with consequent loss of ability to walk, deterioration in breathing function, development of heart failure, skeletal deformity, and, ultimately, early death. Whilst the average age of survival in DMD has improved as a result of improvements in management and supportive care, disease severity varies and there are still a number of young men with a more severe disease course who die as children or young adults (Landfeldt et al. 2020). Whilst recent studies have allowed us to identify different disease courses, the factors underlying these different patterns are not fully understood (Muntoni et al. 2019). A small study from Birmingham highlighted that DMD patients from South Asian backgrounds had a more severe disease course with this patient group losing the ability to walk an estimated two years earlier than those of white British ethnicity (Hufton and Roper 2017). Adjusting for levels of deprivation, significantly fewer boys from white British backgrounds lost their capacity to walk before the age of 9 compared with those of South Asian heritage (Hufton and Roper 2017). A larger study is needed to better assess the impact of ethnicity and social deprivation on disease courses for those with DMD to help plan services and direct future research. This study will match information already collected via the Northstar National Database on progress of boys and men diagnosed with DMD from 2006-2012 across the United Kingdom (UK) with prospectively collected details of ethnicity and social deprivation to determine whether there is any association between them.