Bone Abstracts

Objectives: Duchenne muscular dystrophy (DMD) is a rare hereditary X-linked muscular dystrophy affecting approximately 1:5.000 live borne males. The mobility and respiratory complications have been improved by implementing the glucocorticoid treatment in DMD, however, secondary osteoporosis, short stature and delayed puberty emerged as unwanted side-effects of the treatment. We aimed to evaluate the endocrinological complications in boys with DMD followed at our neuromuscular centre.

Methods: Boys with DMD followed at our neuromuscular centre were systematicaly screened for endocrinological complications. The screening protocol included physical examination, height and BMI measurement, blood tests, lateral X-ray of the spine and bone density assessment. We present the results of a pilot baseline evaluation of the patients.

Results: We were able to analyse the data in 34 boys with DMD, mean age was 10.2±3.5 years. Thirty boys (88%) were on corticosteroids (16 on prednison and 14 on deflazacort), and 24 boys (71%) were still ambulatory. Seventeen boys (50%) had body height below the 3. percentile, 13 (38%) had at least one vertebral compression fracture, 6 (18%) had positive history of a long bone fracture and 9 (26%) had lumbar spine bone mineral density (BMD) Z-score ≤ −2.0. In 3 boys out of 6 aged 15 years or more, gonadoliberin analogues were indicated due to delayed puberty. Based on these findings, bisfosfonate treatment was administered to 12 boys (35%).

Conclusions: According to our preliminary data, the endocrinological complications are common in boys with DMD. Our screening protocol proved to be useful in identifying patients at risk and implementing appropriate treatment approach. We intend to follow the cohort prospectively to describe further development of height, BMI and puberty and to monitor the effect of bisfosfonate treatment on BMD and fracture rate.

Disclosure: The authors declared no competing interests.