Vertebral fractures, short stature and delayed puberty remain widespread among boys with Duchenne muscular dystrophy (DMD) despite improvements in medical care, according to a study published recently in the Journal of Endocrinological Investigation.
This new study from a large pediatric neuromuscular center shows that bone and hormonal complications continue to place heavy burdens on patients.
“The most bothering complication was increased fracture risk and the biggest desire was to maintain gait and muscle strength in arms to perform routine daily activities,” said this study’s authors.
The prospective study included 35 boys with DMD ages 5.7 to 19.7 years, with 91% receiving long-term glucocorticoid therapy. Half had at least one vertebral fracture, 74% were shorter than expected and 56% had delayed puberty. These complications were often not predicted by bone density scans, but were evident through spine X-rays. Researchers emphasized that lateral spine radiographs should remain a key tool for assessing bone health.
Read more about the prognosis of DMD
Fracture risk was particularly concerning. Seventeen percent of participants had long bone fractures, most often after minor falls either standing or from a wheelchair. In contrast, none of the vertebral fractures were linked to noticeable injuries, underscoring the silent nature of bone damage in DMD. Non-ambulant patients had lower bone density scores than ambulant ones, and the age at loss of ambulation strongly predicted the timing of first vertebral fracture.
Growth impairment was another major issue. Nearly three-quarters of boys were shorter than their peers and even shorter than their expected target heights. Longer steroid use and higher cumulative doses were closely tied to this stunted growth. Pubertal delay also emerged as a frequent complication, affecting more than half of the boys over age 14, with several requiring medical induction of puberty.
Survey responses revealed how patients experience these complications. Seventy percent said fracture risk was their biggest concern, while a smaller proportion worried about stature or pubertal timing. Boys entering adolescence described distress over looking much younger than peers, with some feeling it limited their independence and social interactions. Still, their top priority was maintaining mobility and arm strength for everyday activities.
For patients and families, these results reinforce the importance of ongoing surveillance and open communication with care teams. Routine spine imaging, careful monitoring of growth and puberty and responsiveness to patient-reported concerns may help ease the hidden burdens of Duchenne muscular dystrophy while supporting independence and quality of life.
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