WMS 2025 Pre-Congress Teaching Course

Prof.Dr. Nicol Voermans
Radboud University Medical Centre

This will be an interactive session focused on the clinical approach to the neuromuscular (NM) patient in general. This course will cover the essential components of the neurological physical examination, provide practical tools for neuromuscular reasoning and differential diagnosis, and guide participants through first-line investigations and basic ancillary testing. Emphasis will be placed on applying clinical guidelines to establish a solid diagnostic orientation. 

Sabine Specht
university of heidelberg, paediatric neurology

Professor Dr Benedikt Schoser
Friedrich Baur Institute

I will summarize the clinical Gestalt of adults living with rare neuromuscular disorders. The German word ‘Gestalt’ means pattern, structure, configuration, or shape. In the early 1900s, the so-called Berlin School of Gestalt psychology developed a more profound concept of human perception based on the five Gestalt principles: Proximity, Similarity, Continuity, Closure, and Connectedness. Today, designers use these principles to organize content for visually pleasing and ease of understanding, for example, for web content Gestalt approach is a theory on transforming clinical perceptions into coherent, integrative holistic constructs, a significant difference from phenotyping. Gestalt implies that a clinician has the learned skill to brand clinical indirect decisions without complete information by generating solutions from generalizations. I describe this pattern recognition as a heuristic approach to decision-making. Knowledge and experience sustain top-down decision-making accuracy as experienced clinicians have better pattern recognition skills. The classic Gestalt approach is quick and straightforward, but requires practice.  My talk will help to start this type of approach for rare myopathies.

A/Prof Gina Ravenscroft
Harry Perkins Institute of Medical Research and UWA

Increasingly, genetic testing is becoming a frontline tool in the diagnosis of patients that present with neuromuscular diseases. Massively parallel sequencing, new informatic tools and optical genomic mapping is ushering in a new era in molecular diagnostics for neuromuscular diseases and novel disease gene discovery. Unbiased screening has resulted in blurring of the boundaries between different entities and expanding phenotypes associated with variants in a given gene. In this presentation A/Prof Gina Ravenscroft will discuss when to consider genetic testing, different types of genetic testing available and the value of clinical details and routine work-up in guiding molecular diagnoses. Through illustrative examples, A/Prof Ravenscroft will explore the role of genetics in neuromuscular diseases and the various considerations needed along the way to reaching a timely and accurate genetic diagnosis. Drawing on her research experience, A/Prof Ravenscroft will also discuss synergies across diagnostic and research centres and the benefits of an integrated diagnostic-research team.

Participants

André van Egmond-Froehlich

The course will teach the basics of respiratory care in patients with NMD for the "non-pneumologist".

This includes how to recognize functional failures such as sigh-insufficiency, cough-insufficiency, and ventilatory insufficiency and how to compensate their effect with a pyramid of proactive treatments: lung volume recruitment, manual and mechanical cough support, and non-invasive ventilation culminating in mouthpiece ventilation. Based on early involvement of pediatric pulmonologists, regular follow-ups, patient education, as well as pre-op and extubation protocols, emergencies can be prevented or handled.

Karim Wahbi
Paris Cité University, France

Heart involvement is very common in patients with neuromuscular conditions, genetic and inflammatory, and has a major impact on patient quality of life and vital prognosis. This course will summarize the main clinical features, impact on prognosis and therapeutic approaches for neuromuscular cardiomyopathies, including DM1, dystrophinopathies, laminopathies, and other conditions at high cardiac risk.

Prof Tiziana Enrica Mongini
Neuromuscular Diseases Unit

Dysphagia, defined as a disorder of deglutition with impaired swallowing, is a common complication in several neuromuscular disorders (NMDs), and represents a life-threatening event when not timely recognized and treated.

The deglutition process is divided in: oral phase, including preparatory and transit subphases, when food is chewed and mobilised into the oropharynx; it requires appropriate sensation and coordination of tongue, soft and hard palate, and adequate masticatory and mimic voluntary muscles functioning;  pharyngeal phase, when the bolus passes through the palatoglossal arch and the upper esophageal sphincter (UES) under involuntary muscles control, to protect the airways from aspiration; and esophageal phase, when the food bolus passes the UES and goes into the stomach by the smooth muscles peristalsis.

A physiologic deglutition process matures after the sixth month of life and requires the integrity of bulbar anatomic systems, including motor neurons, cranial nerves, skeletal and smooth muscles. Swallowing impairment differs considerably in NMDs according to their etiology, in terms of clinical presentation, therapeutic options, and prognosis. Typical symptoms include poor handling of the oral bolus, upper laryngeal penetration, aspiration and choking. Complications include ab ingestis pneumonia, dehydration, and weight loss in already fragile patients.

Recent general recommendations to manage dysphagia suggest a multidisciplinary approach with a tailored treatment plan involving dietary modification, rehabilitation, and, in selected cases, a surgical approach. Specific guidelines are only available for SMA and ALS; more defined, disease-specific protocols for evaluation and training of neuromuscular dysphagia are auspicated, to reduce delayed diagnoses and treatment.