ICNC Abstracts, ICNC 2018

Font Size: 
Duchenne Muscular Dystrophy a South Indian Perspective
Ann Agnes Mathew

Last modified: 2018-09-09

Abstract


Introduction: Duchenne Muscular dystrophy is the commonest muscular dystrophy. In the absence of a definitive cure, current standards of care revolve around the use of steroids and supportive care addressing respiratory, cardiac and bone health. Poor compliance with steroids due to parental concerns about potential side effects is often seen.

Methods: This was a retrospective study, which looked at the database of a neuromuscular clinic in South India over a period of 5 years. A total of 50 boys with confirmed mutations were included.

Results: 44 children had a deletion mutation, with 2 having duplications and 4 having point mutations in the dystrophin gene. Of the total 50 boys, 43 had a Duchenne phenotype and 7 had Becker phenotype. 6 out of the 50 boys died, of which 5 had Duchenne Muscular dystrophy, with one of the boys who died having a milder phenotype. Only15 of the 50 children were on steroids.

Conclusion: In our study only a third of the children that we diagnosed opted to continue regular management with steroids and supportive care, which is very different from western studies. The absence of a definitive cure has been a demotivating factor for many families, but the trend may improve, as more families with affected children are keener to access definitive cure as well as inclusion into clinical trials, which often has a prerequisite of the child being on steroids. This may improve the adherence to current standards of supportive care.

 


Keywords


Duchenne Muscular Dystrophy

Conference registration is required in order to view papers.