Importance of early diagnosis and referral
Laurent Servais and Zoya Alhaswani cover the essential steps for efficiently diagnosing Duchenne Muscular Dystrophy (DMD), including how to identify primary signs and symptoms, initiate appropriate diagnostic tests, and discuss test results with patients and their families.
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General information
Title: Importance of early diagnosis and referral
Release date: February 6th 2025
Estimated time to complete activity: 15 minutes
Target audience
This activity is intended for pediatric neurologists, primary care physicians, pediatricians, geneticists, genetic counselors, neuromuscular specialists, nurse practitioners, pulmonologists, cardiologists, endocrinologists, orthopedists and physical therapists engaged in the care of patients with DMD.
Learning objectives
After completing the module, you will be able to:
- Recognize potential signs and symptoms of DMD to avoid delays in referrals and treatment onset
- Describe the essential steps for efficiently diagnosing DMD
- Assess the obstacles to achieving a prompt diagnosis of DMD and propose effective strategies for overcoming them
- Describe how to discuss initial results and appropriate referral to specialist clinics
Faculty
- Zoya Alhaswani
Consultant paediatrician with interest in neuromuscular disorders - Laurent Servais
Professor of Paediatrics Neuromuscular Diseases at the University of Oxford and part-time Professor at the University of Liege, Belgium
Disclosures
- Zoya Alhaswani
Consultant/Advisory Board: Roche, Santhera - Laurent Servais
Grants/research support: Roche, Biogen, Novartis, Sysnav, Zentech, Scholar Rock, BioHaven
Honoraria or consultation fees: Roche, Biogen-Novartis, Sysnav, Zentech, Scholar Rock, BioHaven, Pfizer, Sarepta, Dyne, Astellas, Cerebral Therapeutics, Illumina, Altana, Solid, Regenex Bio, Santhera, Italfarmaco
