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.
A general neuromuscular approach to patients
The objective of this talk will be to introduce the clinical approach to the neuromuscular patient in general. This course will cover the essential keys to clinical reasoning when dealing with patients with neuromuscular complaints in the most typical scenarios. It will review the central components of the neurological physical examination, provide practical tools for neuromuscular thinking and differential diagnosis, and guide participants through first-line investigations and basic ancillary testing. The use clinical guidelines will be fundamental to direct a firm diagnostic impression.
Dr Wen-Chen Liang is currently the attending physician and associate professor of Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University. She was also a former postdoc in Department of Neuromuscular Research, National Center of Neurology and Psychiatry, Japan. Her department serves as a referral center for neuromuscular diseases in Taiwan and she has been involved in clinical, pathological and basic research works related to variable neuromuscular diseases, as well as several global clinical trials of SMA and DMD.
How to assess children
Neuromuscular diseases (NMDs) comprise a heterogeneous group of disorders affecting the lower motor neurons, peripheral nerves, neuromuscular junctions, and skeletal muscles. Most NMDs are hereditary and the majority of genetic NMDs are present during infancy or early childhood. As the underdiagnosis or misdiagnosis consequently leads to significant delays of accurate diagnosis, culminating in lag of receiving adequate care and treatment, it is critical for physicians to be aware of the common symptoms and signs of NMDs shown in infancy and childhood. In this lecture, I will explain the essential features often observed in paediatric patients with NMDs and how to assess them.
Dr Meredith James PT PhD is a Clinical Specialist Neuromuscular Physiotherapist and Principal Investigator at the John Walton Centre for Muscular Dystrophy Research at Newcastle, where she is involved in clinical and research activity for children and adults with Neuromuscular disorders.
Clinically, Meredith is responsible for the physiotherapy management of both children and adults with neuromuscular diseases. In particular, her interests are in patient-centered assessment, orthotics, outcome measures and research into these areas. In her clinical research capacity, Meredith is responsible for the clinical evaluation of children and adults involved in natural history and clinical trials, as well as the development of clinically meaningful, reliable and sensitive outcome measures for NMD. Meredith has been involved in the development of the North Star Ambulatory assessment (NSAA) for Duchenne Muscular Dystrophy, the Performance of Upper Limb (PUL) used in DMD, LGMD and BMD. Meredith led the development and validation of the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) now utilised internationally in clinics and clinical trials in Limb Girdle Muscular Dystrophy, Becker Muscular dystrophy and Late Onset Pompe Disease
Introduction to neuromuscular physical examination
Details pending
Dr. Liewluck is Professor of Neurology at Mayo Clinic in Rochester, Minnesota, USA. He evaluates patients with neuromuscular disorders, performs electrodiagnostic studies, and interprets muscle biopsies. His clinical and research interests focus on hereditary and acquired muscle diseases, particularly autoimmune, monoclonal gammopathy-associated, amyloid, immune checkpoint inhibitor-associated, and lipid storage myopathies. He has authored over 159 peer-reviewed publications and nine book chapters and co-edited a book on muscular dystrophies. He serves on the Program, Communications, EDI, and Global Myology Outreach Committees of the WMS and the ICNMD Program Committee, chairs the AANEM Abstract Review Committee, serves on the UCNS Clinical Neuromuscular Pathology Examination Committee, and is an IMyoS Associate Board member.
Electrodiagnostic studies in neuromuscular medicine
Electrodiagnostic studies, including nerve conduction studies (NCS) and needle electromyography (EMG), remain important tools in the evaluation of patients with suspected neuromuscular disorders. However, their diagnostic value varies considerably depending on the clinical question and appropriate test selection and interpretation. This talk will provide a practical approach to the rational use of electrodiagnosis in clinical practice, emphasizing its utility as well as its limitations. Through common clinical scenarios, we will discuss when EMG and NCS are indispensable for diagnosis and localization, when they provide useful complementary information, and when they may be unnecessary or offer little additional diagnostic value. The talk will also highlight how electrodiagnostic findings should be integrated with the clinical examination, laboratory investigations, imaging, genetic testing, and other diagnostic modalities. The overall goal is to help clinicians use electrodiagnostic testing selectively and effectively to answer specific clinical questions and guide subsequent diagnostic evaluation and management.
Giorgio Tasca is Clinical Professor of Neuromuscular Science at the John Walton Muscular Dystrophy Research Centre, Newcastle University, UK, a position he has held since January 2023. He completed residency training in Neurology in 2011 and obtained a PhD in Neuroscience in 2014 at the Catholic University School of Medicine in Rome. His research focuses on neuromuscular disorders, particularly muscle imaging in adult-onset myopathies and muscular dystrophies, and on molecular mechanisms and biomarkers in facioscapulohumeral muscular dystrophy. He is co-chair of the Euro-NMD Neuromuscular Imaging Group.
Ultrasound and MRI diagnostics
Muscle imaging is increasingly integrated into the evaluation of neuromuscular disorders, both for diagnosis and for longitudinal follow-up. In this lecture, I will review a practical and rational approach to the use of muscle MRI and ultrasound in neuromuscular disease, focusing mainly on myopathies. I will compare the advantages and limitations of these modalities, including diagnostic performance, availability, operator dependence, and their role in monitoring disease progression. Particular attention will be given to imaging patterns that assist differential diagnosis, help target further investigations, and support their use in clinical practice, natural history studies, and clinical trials.
Edoardo Malfatti is a Full Professor of Neuromuscular Disorders and Histopathology at the University Paris-Est, AP-HP Henri Mondor University Hospital, France, and Director of the MUSKETHER INSERM Research Laboratory, Pathophysiology and Therapy of Musculoskeletal Disorders. He chairs the Neuropathology ERN EURO-NMD group. His expertise focuses on three core areas: (i) the clinical and genetic aspects of inherited neuromuscular disorders; (ii) muscle histopathology; and (iii) translational medicine for inherited myopathies. Over the past 15 years, he has contributed to the genetic and myopathological characterization of ten novel early-onset and metabolic myopathies. In 2015, Edoardo was awarded the Young Myologist of the Year Award by the President of the World Muscle Society. He currently provides clinical care for a cohort of more than 450 patients with inherited neuromuscular disorders and serve as the coordinator of the French Calpainopathy Registry. As an academic, he is actively involved in teaching neuromuscular medicine to medical students, residents, and practicing physicians through several national and international Master's programs and diploma courses. He has also developed collaborative projects in myology and muscle pathology with partners in more than 20 low-income countries across four continents.
Muscle biopsy assessment
First performed by Duchenne de Boulogne in the nineteenth century, muscle biopsy became central to the diagnosis and classification of myopathies with the introduction of cryostat sections, histochemistry, immunohistochemistry, and electron microscopy. The development of next-generation sequencing and serological diagnosis has profoundly changed its place in diagnostic algorithms. Although biopsy is no longer a first-line investigation for readily identifiable myopathies, it remains essential when genetic findings are inconclusive, particularly for assessing variants of uncertain significance, validating newly identified disease genes, and redefining morphological disease spectra, and in unclear acuqired myopathies.
Muscle tissue also provides unique opportunities for RNA sequencing to detect cryptic variants expressed only in muscle and for multi-omics studies investigating disease mechanisms and trajectories. Comparative analysis of human biopsies and experimental models is increasingly important for evaluating genome-modifying and other targeted therapies. In clinical trials, pathology may contribute to patient stratification and provide morphological evidence of target engagement or therapeutic efficacy.
This teaching course will review the historical and contemporary roles of muscle biopsy, sampling and tissue-processing techniques, and the principal histopathological methods. It will offer a practical framework for selecting patients and integrating clinical, serological genetic, imaging, and pathological findings to achieve an accurate diagnosis and guide treatment.
Associate Professor Oates is a practicing clinical geneticist and leads the UNSW Medical Genomics Research Team. She has > 17 years of neuromuscular clinical, diagnostic and gene discovery experience. Her overriding ‘north star’ goals are to translate advances in genetics and genomics into improved patient outcomes and ensure equitable access to care for all families impacted by rare conditions. She has contributed to > 150 genetic diagnoses in both clinical and research settings and the identification of several new genetic conditions including BICD2-SMALED and SCN4A–myopathy. She and her team are also contributing to the development of novel rare disease treatments.
Genetic assessment
Over the past 15 years, revolutionary advances in genomic sequencing and associated bioinformatic technologies have transformed the genetic diagnostic landscape for neuromuscular disorders (NMDs). The increasing availability of massively parallel sequencing-based testing options in the clinical diagnostic setting, including targeted gene panels, whole exome sequencing, and whole genome sequencing, have substantially increased NMD genetic diagnosis rates. Furthermore, the use of these technologies in the research setting has resulted in the discovery of > 150 new NM disease genes and conditions. In combination, these advances have transformed NM patient care by facilitating improved family and prognostic counselling, disease-targeted management and surveillance practices, access to reproductive testing options, and, increasingly, access to the growing list of established and emerging NMD-targeted precision therapies.
This presentation will provide, via case-based examples, an overview of contemporary genetic and genomic testing strategies in the NMD setting, highlighting practical approaches to test selection and interpretation as well as the strengths and limitations of different testing options. Diagnostic challenges including variants of uncertain significance, incidental findings, and equity of access to genomic testing options will also be discussed. We will also explore how additional emerging technologies including long read sequencing and multi-omics-based approaches are already further-transforming our ability to diagnose and manage families impacted by genetic NM conditions.
Maria Angélica Palomino is a pediatric pulmonologist and a Full Professor at the University of Chile. She currently works at Clínica Las Condes and Universidad Finis Terrae. Her work focuses primarily on preventive respiratory care for the most prevalent childhood neuromuscular diseases (NMDs). Drawing on her experience and findings, she contributes to the body of knowledge and the implementation of public policies regarding the preventive and proactive management of respiratory issues in patients with neuromuscular diseases—particularly spinal muscular atrophy. Her publications demonstrate her contributions to management guidelines for these conditions, as well as for other chronic diseases such as bronchopulmonary dysplasia, bronchial asthma, and the sequelae of viral respiratory infections. Her affiliation with a leading institution—and the fact that Clínica Las Condes has served as a referral center for patients with neuromuscular diseases—has provided her with extensive management experience. Through the publication of her results, she has helped shift the management paradigm for NMDs from a traditional approach to one that is proactive and focused on preventing respiratory complications.
Ventilatory weakness
Respiratory failure is the leading cause of morbidity and mortality in neuromuscular disease (NMD). A shared functional framework —FVC, MIP/SNIP and cough peak flow— allows clinicians to anticipate decline across congenital myopathies, limb-girdle dystrophies, myotonic dystrophy and other NMDs, tailoring the timing of cough assistance and non-invasive ventilation (NIV) to the phenotype: myopathies with early diaphragmatic involvement (e.g. collagen VI) often require nocturnal NIV even while ambulation is preserved.
In children with spinal muscular atrophy (SMA), relative diaphragmatic preservation combined with marked intercostal weakness calls for chest support (air stacking, cough assistance) and nasal NIV from diagnosis, even presymptomatically in type 1; disease-modifying therapies improve motor function faster than respiratory function, so preventive respiratory care remains essential.
In adolescents and adults with Duchenne muscular dystrophy (DMD), expiratory weakness precedes inspiratory weakness —ineffective cough is the earliest marker—, corticosteroids delay loss of ambulation and the need for NIV, and annual cardiac surveillance is mandatory: cardiac disease is now the leading cause of death despite good respiratory control.
Bottom line: respiratory failure in NMD is predictable and preventable through systematic, disease-tailored monitoring.
Adam Partridge is a clinical psychologist with more than 20 years of experience in the assessment and treatment of a broad range of mental health conditions and neurodevelopmental disorders. He has worked across inpatient and outpatient services in both clinical and supervisory roles. Dr Partridge has extensive experience supporting children, adolescents and young adults with neuromuscular disorders and their families, with a particular interest in the psychological and psychosocial impact of chronic health conditions. He is a regular presenter at state, national and international conferences, where he shares practical, evidence-informed approaches to clinical care.
Mental Health in NMD
This presentation will provide a practical overview of mental health and mental health care for individuals with neuromuscular disorders. Common emotional, behavioural and neurodevelopmental comorbidities will be explored, including psychosocial challenges that are typically associated with neuromuscular conditions. The presentation will consider key developmental and illness-related stressors that contribute to mental health difficulties. A framework for recognising, and responding to, warning signs and clinical indicators of deteriorating emotional, behavioural and mental health will be presented. The session will also highlight protective factors that contribute to improved mental health outcomes, quality of life, and psychosocial functioning. A central aim is to equip clinicians with a practical and useful framework for recognising, monitoring and responding to the mental health needs of individuals with neuromuscular disorders, to ensure an integrated and proactive approach to mental health care.
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 and was member of the WMS executive board. Benedikt's special interests are multisystemic neuromuscular disorders and translational research.
How can we transfer molecular neuromuscular knowledge into patient's therapy?
Genetically defined neuromuscular disorders (NMDs) number over 600, and for most the molecular cause is known—yet fewer than 10% have an approved disease-modifying therapy. This talk frames translation as a five-step cascade: classifying the molecular lesion, choosing a druggable target, matching a therapeutic modality to the lesion class, solving tissue delivery, and proving clinical benefit. Spinal muscular atrophy illustrates successful translation, with three independent platforms (splice-switching ASO, small-molecule splicing modifier, AAV gene replacement) converging on the same SMN1/SMN2 target. Myotonic dystrophy type 1 exemplifies why toxic RNA gain-of-function and multisystem pathology resist the SMA playbook, while Pompe disease shows enzyme replacement maturing across three generations, reframing “success” as stabilization within a therapeutic corridor rather than restitution. Sporadic inclusion body myositis demonstrates cascade failure at its root: without a defined molecular lesion, no downstream strategy can rescue the program. Across diseases, delivery—not modality—is now the dominant bottleneck, particularly for skeletal muscle, cardiac tissue, and the CNS. Reverse translation via biomarkers (splice indices, dystrophin quantification, neurofilament, enzyme activity) closes the loop between patients and models. Ultimately, translating molecular knowledge into medicine depends on systemic infrastructure—diagnostics, registries, consortia, and specialized care units—and on extending proven therapies from high-income settings to global availability.
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.
Counselling your patient about a neuromuscular diagnosis (interactive session)
Details pending
Katy de Valle is a Senior Physiotherapist at The Royal Children’s Hospital and a Postdoctoral Research Fellow at the Murdoch Children’s Research Institute in Melbourne, Australia. Over a 20-year career in paediatric neuromuscular disorders, she has worked within multidisciplinary clinical teams and as a clinical evaluator in neuromuscular research studies spanning a broad range of disease areas. Her doctoral and postdoctoral research focuses on optimising clinical care and developing, validating, and implementing clinical outcome measures for children and young people with facioscapulohumeral muscular dystrophy (FSHD).
Rehabilitation in NMD (interactive session with Meredith James)
This pre-conference workshop session will provide an evidence-informed overview of rehabilitation management across the lifespan for individuals with neuromuscular diseases (NMDs), with a focus on the integral role of physiotherapy within multidisciplinary models of care. The session will examine the contribution of physiotherapy and allied health interventions in optimising functional capacity, physical health, participation, and health-related quality of life, while providing practical guidance on appropriate referral pathways and the timing of multidisciplinary involvement throughout the disease trajectory.
Emphasis will be placed on the selection and application of meaningful outcome measures to support proactive, anticipatory rehabilitation planning. Participants will explore how outcome measures can inform clinical decision-making, facilitate longitudinal monitoring of disease progression, evaluate intervention effectiveness, and identify emerging rehabilitation needs. Core rehabilitation principles applicable across the spectrum of NMDs will be discussed alongside key disease-specific considerations, equipping clinicians with practical, evidence-based strategies to enhance rehabilitation outcomes for both paediatric and adult populations
