Endo-ERN webinar: Endocrine and bone management in Duchenne muscular dystrophy

endo-webinars_210125

In this webinar, Dr. Jarod Wong from the University of Glasgow will review the endocrine and bone morbidity in DMD with focus on the updated international care recommendations and discuss areas for future research which includes management of endocrine and bone in adults with DMD. He will be joined by Justus Kuijer who will share his experience of endocrine and bone morbidity.

Duchenne muscular dystrophy (DMD) is a rare X-linked inherited neuromuscular condition affecting 1 in 4000 boys. Most are diagnosed in early childhood, and it is characterised by progressive muscle wasting. To date, there is no curative therapy, and untreated boys usually loose ambulation between 10-11 years. Oral glucocorticoid (GC) has been shown to slow the muscle wasting prolonging age at loss of ambulation by about 2-3 years. Treatment is also beneficial for respiratory, cardiac status and upper limb function, and is continued indefinitely. Therefore, current standards of care of management of DMD is a model of chronic GC excess, leading to significant endocrine and bone morbidity with impact on the quality of life of these young people. Recent international recommendations of standards of care in DMD (2018) have consolidated endocrine monitoring and management in these boys.

Osteoporosis leading to fragility fractures is observed in about 50-75% of GC treated boys with DMD. Vertebral fracture presenting with back pain is present in about 10%. With the use of routine spine imaging, vertebral fracture is seen in at least about 40% of these boys. Short stature not related to endocrine dysfunction is observed in about 25% of young boys with DMD prior to the introduction of GC: the aetiology of the short stature is still unclear. Delayed puberty due to central hypogonadism is extremely common and contributes further insult to the skeleton. Secondary adrenal insufficiency from the use of long-term GC is an issue that may often not be addressed in detailed and has been a cause for concern at the start of the COVID19 pandemic. Emerging data also suggests that endocrine and bone morbidity may differ depending on GC regimen. Boys on daily GC are shorter, more overweight and have higher risk of fractures including vertebral fractures. However, boys on intermittent GC may have poorer skeletal muscle outcome. Published data also suggests that short stature and bone morbidity may be commoner in those treated with Deflazacort whereas weight gain appears commoner in those treated with Prednisolone.

Webinar summary

WebinarEndocrine and bone management in Duchenne muscular dystrophy
DateJanuary 25th, 2021
Time14:30 – 15:30 hr
SpeakersJarod Wong
Justus Kuijer
RegistrationRegister for webinar
MTG