Neuromuscular diseases encompass a heterogenous group of disorders which may be genetically determined, genetic or acquired, congenital or later onset, acute or chronic, and progressive, static or intermitted. Specific therapies are emerging for an increasing number of diseases with promising results for genetically determined diseases of the neuromuscular system, including spinal muscular atrophy, Duchenne muscular dystrophy and treatable myopathies, but also for acquired conditions. The entry point for any directed therapy however is an accurate diagnosis.
The aim of this ‘Meet the Experts’ session for the Junior Members of ICNA, non-member trainees and anyone interested is to discuss selected case presentations from different age groups and patient populations, reflecting daily practice from different sites and resources in an interactive way, with a focus on the various tools we have to achieve a diagnosis. These are ranging from the purely clinical, the extended phenotype (imaging and electrodiagnostics), biopsy, to genetic and genomic investigations.
Educational objectives for the symposium are three fold:
- Review clinical clues from a detailed history and points on the physical examination and discuss when to consider a neuromuscular disease .
- Teach how to integrate clinical phenotype, and/or imaging and histology, as well as genetic tools to arrive at a diagnosis.
- How to confirm or refute a suspicious but not yet diagnostic genotype, based on careful iterative clinical analysis.
- Approach to most common neuromuscular presentations including early-onset muscle diseases, and recognize various important phenotypes in the pediatric age group using clinical, extended clinical, and basic laboratory clues.
- Learn to fully characterize the patient to create a differential diagnostic list of diagnostic possibilities based on the patient presentation and exam- based localization according to anatomic region and systems involved, and combine traditional and modern diagnostic testing and consider management strategies including proactive treatment opportunities. Impact Statements
- Awareness of the many different presentations in the pediatric neuromuscular field and recognition of patients in whom a neuromuscular specialist should be referred in the ‘Pediatric Neurology’ practice.
- Recognition of most common clinical phenotypes, individualized clinical and laboratory approaches, molecular diagnostic tests, and management strategies including genetic counseling in the pediatric neuromuscular disorders field.
Organizer: Göknur Haliloğlu, MD; Hacettepe University Children’s Hospital, Ankara, Turkey
Göknur Haliloğlu, MD
Carsten G. Bönnemann, MD;
National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA