Current management of Duchenne muscular dystrophy in the Middle East: expert report.

Aim: Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and early death due to cardiac or respiratory failure. The objective of this paper is to address different aspects of the current management of DMD in the Middle East, north Africa (MENA) region, and to gather experts' recommendations on how to optimally diagnose and treat patients suffering from this disease. Methods: A group of experts (neuromuscular medicine, neuropediatricians and geneticists) convened to discuss the diagnosis and management of DMD in the MENA region. A list of practical statements was prepared by the chair of the meeting to guide the discussions around critical aspects relating to the current and future management of DMD. Results & conclusion: Ideally, DMD management should be a multidisciplinary approach. Nevertheless, few tertiary care hospitals in the region are currently able to provide the full spectrum of medical expertise and services needed by DMD patients. Clinical practice in the region remains heterogeneous. Specific guidelines for diagnosis and treatment are needed in the MENA region to improve outcomes. Disease awareness among the general public and the medical community is lacking. Now that mutation-specific therapies are being developed and more widely studied, general education programs regarding early signs and symptoms, a standardized referral and diagnosis pathway, patient registries and support groups will significantly improve the management of the disease.

Pediatric diaphragmatic pacing.

Diaphragmatic pacing has been shown to play a significant role in adult patients with diaphragmatic paralysis and facilitates mechanical ventilation weaning. However, reports on its use in paediatric patients are scarce. This report is about a 4-year-old child with a spinal cord injury secondary to a motor vehicle accident that led to quadriplegia and diaphragm paralysis. The patient underwent a diaphragmatic pacing procedure, which helped start gradual weaning from mechanical ventilation. We reviewed the concept of the diaphragmatic pacer and its types depending on the site of the implantation. In addition, we reviewed who can benefit from using a diaphragmatic pacer and compared its use in adults versus paediatric patients. Our case showed that diaphragmatic pacing appears to be effective, as it facilitates mechanical ventilation weaning and improves the quality of life outcome in paediatric patients with diaphragmatic paralysis.