Disclosures: Nathan Spencer, DO: No financial relationships or conflicts of interest

Case Diagnosis: A 15-year-old male diagnosed with DMD currently on Eteplisren underwent surgical fixation of a left hip fracture followed by aggressive inpatient rehabilitation resulting in near complete return to functional baseline two months post-operatively.

Case Description: A 15-year-old male diagnosed with DMD at the age of five received standard care from the time of diagnosis until age nine. His genetic testing was amenable to Eteplisren treatment and in 2014 he enrolled in clinical trials for this Exon 51 modifying agent. He received regular infusions from that point until present with a six week lapse in 2016 due to insurance authorization. He used a pedometer and averaged about 3000 steps per day. At age 15, he suffered a ground level fall resulting in a left minimally comminuted, mildly displaced intertrochanteric fracture requiring operative fixation with intramedullary nailing. His postoperative course was uncomplicated, discharging on postoperative day four to an inpatient rehabilitation facility where he exceeded expectations by returning to near premorbid function.

Setting: Academic tertiary medical center and affiliated inpatient rehabilitation facility.Assessment/

Results: Patient exceeded expectations during his inpatient rehabilitation stay. On follow up 2 months postoperatively, patient had near complete return to baseline, walking 2,200-3,000 steps daily with mild deficits requiring more sit to stand assistance than prior to injury.

Discussion: To our knowledge, this is the first case documenting a return to ambulation following hip fracture in a teen with DMD. This was likely attributed to infusions of Etepliseren from the age of nine with aggressive inpatient rehabilitation.

Conclusion: The long term benefits of genetically modifying agents such as Eteplisren have not been studied as to their very limited history of use. This case study demonstrates a benefit from long term use. Clinicians would benefit from longitudinal studies of these patients to better anticipate prognosis to maximize their function and quality of life.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/teen-with-duchenne-muscular-dystrophy-dmd-taking-etepliseren-returns-to-ambulation-after-complex-proximal-hip-fracture-a-case-report/