#WMS2025
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Department of Neurology and Neurosurgery, Hospital Clínico Universidad de Chile, Facultad de Medicina, Universidad de Chile, and Clínica Dávila, Santiago Chile.
Jorge Bevilacqua is PhD in Neurobiology, Adults Neurologist, EMG and NCS Specialist, Diploma in Myology and Muscle Pathologist. Currently is appointed as Professor and Head of the Neuromuscular Unit of the Department of Neurology and Neurosurgery, Universitary Hospital of the Faculty of Medicine, Universidad de Chile, and Head of the Myology Laboratory, Davila Clinic Recoleta, Santiago, Chile.
Counselling your patient about a neuromuscular diagnosis (interactive session)
In regular courses on neuromuscular diseases, emphasis is mainly placed on the technical scientific features of the diagnostic process from the medical point of view and how to obtain it, and on management and for some conditions, specific treatments. However, equally relevant aspects of the diagnostic process and the practical interaction with the patients and families, such as counselling, immediate steps to take after receiving the diagnosis, or what to do if a definite diagnosis cannot be achieved, are less debated. This interactive session aims to analyze the diagnostic process for neuromuscular patients from a slightly different angle, observing the “diagnostic odyssey” or the delay patients experience in receiving accurate information, useful for making decisions in their daily lives regarding their condition, including the medical and the patient’s vision of the problem. We will also discuss how the diagnosis is communicated, advising the patient (and their family) how to proceed once they receive the diagnosis, or how the medical team should continue when a definitive diagnosis is not possible, including situations in different world regions or setups. Finally, based on patient testimonies, their vision of their condition and its implications will be debated.
Reginald E. Bittner is affiliated with the Neuromuscular Research Department at the Center of Anatomy and Cell Biology, Medical University of Vienna, located in Vienna, Austria. His work primarily focuses on the cellular and genetic aspects of neuromuscular disorders, as evidenced by his extensive research contributions. His affiliation with a leading institution underscores his active engagement in advancing the field of cell biology and neuromuscular research.
Reginald E. Bittner's research contributions are significant, spanning various aspects of neuromuscular diseases and related genetic disorders. His work includes the study of genetic mutations linked to muscular dystrophy, cognitive changes due to genetic variations, and the physiological effects of specific pharmaceutical agents. Bittner's research has explored conditions such as HIDEA syndrome, Duchenne muscular dystrophy, and Pompe disease, providing valuable insights into the underlying genetic and physiological mechanisms. His studies have utilized advanced techniques such as whole-genome sequencing and optical coherence tomography, contributing to a deeper understanding of complex genetic disorders.
Muscle biopsy assessment
Details pending
Professor of Neuromuscular Diseases at Newcastle University in the UK. Interested in basic and clinical research.
How can muscle imaging help in the diagnosis and follow-up of patients with neuromuscular diseases?
Muscle imaging is gaining popularity for both the diagnosis and follow-up of patients with neuromuscular diseases. In this lecture, I will review the different options available for obtaining images of the skeletal muscles of patients, including ultrasound (US) and MRI. I will discuss the pros and cons of both techniques, review the main radiologic features of different neuromuscular diseases and walk you through the scientific evidences on the utility of these techniques for the follow-up of patients in clinics, trials and natural history studies.
Dr. A. Reghan Foley is a Senior Research Physician within the Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA. She sees genetically undiagnosed patients with congenital onset neuromuscular conditions and follows children with congenital myopathies and congenital muscular dystrophies via various natural history studies. Dr. Foley has served as an investigator for Phase 1 clinical trials in the COL6-related dystrophies, LAMA2-related dystrophies, MTM1-related myopathy, and giant axonal neuropathy.
Systematic overview of patients presenting with “floppy infant” syndrome with neuromuscular weakness
Hypotonia in an infant or the so-called “floppy infant” syndrome has numerous potential etiologies, including genetic or acquired causes affecting the central nervous system or the peripheral nervous system. An essential goal of the neuromuscular specialist is to determine if the hypotonic infant has underlying weakness, the pattern of such weakness, and any associated general examination findings of diagnostic relevance. Along with detailed clinical history and family history and a careful neuromuscular examination of the infant (and often the parents), the use of ancillary tools including muscle ultrasound and electromyography/nerve conduction studies may help in localising the cause of weakness to the motor neuron, the nerve, the neuromuscular junction or the muscle. This talk reviews the approach to evaluating infants with hypotonia due to neuromuscular weakness, outlines extensive differential diagnoses, and highlights clinical pearls helpful for recognizing specific congenital myopathies, congenital muscular dystrophies, and congenital myasthenic syndromes. While the availability of next generation sequencing (NGS) in the clinical setting may alter the traditional diagnostic approach to the so-called “floppy infant,” the role of the neuromuscular specialist remains paramount for establishing a differential diagnosis and assessing which gene variants found via NGS are plausible or implausible based on the patient’s overall phenotype, which is essential for arriving at an accurate diagnosis and providing disease-relevant proactive care.
Saskia Houwen has been a rehabilitation physician since 2013. Her expertise is on neuromuscular disorders and rehabilitation. Focusing on life span medicine inclusive a broad scale of symptoms in different disease stages, on transitioning into adulthood, rehabilitation interventions, females with dystrophinopathy and barriers in social participation. The research questions arise from the clinical work in the Amalia children’s hospital and the outpatient department for people with NMD in transition. Besides, she is principal investigator on clinical trials to investigate new medicine for patients with DMD. The organisation of care is a point of her attention, where she focuses on improving national multidisciplinary care for adults with DMD.
Multidisciplinary screening as a diagnostic lens: uncovering neuromuscular disorder
The importance of an early and correct diagnosis is not disputed. However, despite the rapid developments in genetics and biomarkers, there are still cases that puzzles our minds. On the other hand it is not always necessary to conduct invasive measures if the clinical pattern is already outspoken.
Often rehabilitation care is seen as an end station, after the diagnosis is known, the rehabilitation physician and allied health care professionals may support the patient in their needs and participation. Which is true. However, this presentation will show you how the multidisciplinary scope can also be seen as a supportive diagnostic tool. The perspective of different health care professionals together can form a different total picture and may guide further diagnostic tests.
Associate Professor of Neurology, Department of Neurosciences; Chief of the Neuromuscular Unit at the University Hospital Città della Salute di Torino, Italy; Responsible of the diagnostic and care services for neuromuscular disorders, Regional referral level (Nord-West Italy); Laboratory for Neuromuscular Diseases; PI in observational research projects and therapeutic trials. Coordinator of the HCP Città della Salute – EURO NMD
Swallowing weakness
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.
Dr Ravenscroft is an NHMRC Emerging Leadership Fellow at UWA and leads the Rare Disease Genetics and Functional Genomics Group at the Harry Perkins Institute.
Genetic assessment
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.
Benedikt Schoser is a trained neurologist, neurophysiologist, neurointensivist, palliative medicine doctor. He is a professor of Neurology, at the Friedrich-Baur-Institute, LMU Munich, Germany. He is a long-term member of the WMS and organized the WMS teaching course for some years. Currently, he is member of the WMS executive board. Benedikt's special interests are multisystemic neuromuscular disorders and translational research.
Rare phenotypes: a Gestalt approach
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.
Dr Karen Suetterlin is a consultant clinical neurophysiologist for the NHS Highly Specialised Service for Limb Girdle Muscular Dystrophy at the John Walton Muscular Dystrophy Research Centre and the Royal Victoria Infirmary Clinical Neurophysiology Department in Newcastle Upon Tyne. She is also the emerging Leader for the Ageing, Sarcopenia and Multimorbidity theme of the NIHR Newcastle Biomedical Research Centre. Her research interest lies in developing and delivering next generation physiology for rare neuromuscular disease and sarcopenia.
(sf)EMG and NCS in clinical practice
I will describe a pragmatic approach to clinical neurophysiology for neuromuscular disease. I will discuss the utility and limitations of electrodiagnosis for different neuromuscular disorders. I aim to highlight where it is indispensable, when it may not be necessary and when it is of no use. I will also briefly discuss gaps in our current capabilities and techniques in development that might address (some) of these gaps.
I am a neuromuscular neurologist working at the Radboudumc in Nijmegen with more than 15 years of clinical and research experience. My main fields of research are:1) Faciocapulohumeral dystrophy (FSHD): genotype - phenotype coupling, trial readiness, optimal symptomatic treatment and trial fitness, and clinical trials; and 2) Congenital myopathies: genotype - phenotype coupling, trial readiness, optimal symptomatic treatment and trial fitness, and clinical trials. My research groups collaborates with various excellent researchers, among whom are prof. Jungbluth in London and prof. Treves in Basel. In 2021, I have launched the FSHD European Trial Network, bringing together all researchers and clinicians involved with FSHD in Europe.
A general neuromuscular approach to patients
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.
Karim Wahbi is Professor of Cardiology at the University of Paris, France and head of the reference centre for neuromuscular cardiomyopathies in Cochin Hospital, Paris. He completed his cardiology internship and residency at the University of Paris Descartes. He specialises in the clinical management of patients with cardiomyopathies with a specific expertise in neuromuscular diseases. Key areas of clinical and fundamental research for Pr. Wahbi are prevention of heart failure and sudden death and the study of molecular mechanisms underlying neuromuscular cardiomyopathies.
Heart involvement
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.
Andreas van Egmond-Fröhlich, MD, Ph.D. is a pediatric pulmonologist, at the Austrian muscle centre, dept of pediatrics Klinik Favoriten, Vienna. Andreas was trained as a pediatric pulmonologist at UW-hospital Madison Wisconsin, USA with a special interest in respiratory physiology, pathophysiology, and secretion clearance. He worked for 14 years in pediatric rehabilitation in Germany and has focused on advancing non-invasive respiratory care for children and adolescents with neuromuscular disorders for more than 12 years since moving to Vienna. He was involved in teaching seminars on this subject in various countries. Andreas is a member of the ERS and GPP.
Respiratory muscle weakness
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.
