Updates in SMA: A Team Approach for Patient Identification, Diagnosis, and Treatment
Spinal Muscular Atrophy (SMA) is an autosomal recessive hereditary neuromuscular disorder with an estimated incidence of approximately 8 to 10 per 100,000 births. Clinical presentation is such that SMA could be initially detected by a wide spectrum of clinicians, including physical therapists, speech pathologists, orthopedic surgeons, and pediatricians, among others. While SMA patients may experience (sometimes profound) disability, initial index of suspicion may be low on the part of the clinician, particularly among those who rarely see these patients. Effective therapies for the management of SMA exist, but it is critical to diagnose and treat SMA as early as possible for maximal benefit of therapy. Unfortunately, diagnosis is often inaccurate and delayed. This presentation will emphasize the impact of early diagnosis and treatment of SMA by early recognition of signs and symptoms as they present in different clinical settings.
Date: 6 December 2022, 12:00 (Tuesday, 9th week, Michaelmas 2022)
Venue: John Radcliffe Academic, Headington OX3 9DU
Venue Details: Seminar Room 4B, George Pickering Education Centre
Speaker: Prof Laurent Servais (University of Oxford)
Organising department: Department of Paediatrics
Organisers: Dom Tromans (University of Oxford), Jaspreet Chahal (The France Foundation)
Organiser contact email address: dom.tromans@paediatrics.ox.ac.uk
Booking required?: Required
Booking url: http://s.alchemer.com/s3/9151-SMA-Global-Meeting-Professorship-Series
Audience: Oxford University and OUH
Editor: Dominic Tromans