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12:30
I will summarize a clinical Gestalt approach for assessing adults living with 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. We 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 much practice. My talk will help to start this type of approach.
Professor Dr Benedikt Schoser (Presenter)
Friedrich Baur Institute
13:00
The clinical evaluation of the infant and young child with neuromuscular weakness remains an indispensable skill even in the age of next generation genetic testing, both for pre-testing as well as post testing assessment. A systematic approach to the symptoms and signs of neuromuscular weakness early in live is governed by considering anatomy, physiology, and disease categories and their implications for the resulting clinical presentations - and knowledge how to properly recognize and elicit the relevant clinical findings. This presentation will illustrate this concept with many clinical examples and videos.
Prof. Carsten G. Bönnemann (Presenter)
National Institute of Neurological Disorders and Stroke/NIH
13:45
EMG and neurography (nerve conduction studies, NCS) are an extension of the clinical evaluation of the patient with neuromuscular disease (NMD). EMG and NCS allow to define the level of the lesion of the motor unit, the activity and distribution of the process (chronic vs acute, local vs. generalized) and, if necessary, can be used to monitor disease progression. Some test, such as motor unit number estimate (MUNE), or CMAP amplitudes are used as inclusion criteria or outcome measures for clinical trials. Repetitive nerve stimulation test and SFEMG play major role in the diagnosis of the neuromuscular junction diseases. Appropriate reference values have to be used when testing children and adults. Improved access to genetic testing changed diagnostic algorithms of the most common NMDs, such as eg. DMD, SMA or DM1, in which EMG and NCS are no longer needed for the diagnosis. At the same time new NCS diagnostic criteria for inflammatory neuropathies have been proposed. EMG and NCS are indispensable in the diagnosis of acquired NMDs, with an implementation of the current diagnostic criteria. In many hereditary NMDs EMG and NCS will be performed not at the beginning of the evaluation, but as a tool to characterize the phenotype of the patient and aid the interpretation of NGS or WES testing. The examples of the challenges in EMG and NCS will be provided and discussed with the workshop participants.
Anna Kostera-Pruszczyk (Presenter)
Medical University of Warsaw, Poland
14:15
In this talk I will discuss the indications of muscle ecography and muscle MRI in the diagnosis and follow-up of patients with neuromuscular diseases. I will present results of several studies describing the mean features that allow us to identify pathologic changes in the muscle of patients with NMDs. Moreover, we will discuss how to use these techniques to help in the diagnosis process. I will also describe different quantitative muscle MRI techniques and present results of research studies showing their utility for the follow-up in natural history studies and clinical trials. Finally I will present new MRI techniques that could provide valuable information for the study of neuromuscular diseases.
Prof Jordi Diaz-Manera (Presenter)
University of Newcastle
15:00
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.
A/Prof Gina Ravenscroft (Presenter)
Harry Perkins Institute of Medical Research and UWA
15:45
During this talk, we will discuss the basics of muscle biopsy analysis and possible future applications. We will consider pre and post-muscle biopsy aspects that allow us to achieve the best diagnostic yield. We will consider the best practices to perform the biopsy, which techniques can be used, and what can be learnt from it. We will discuss how to read a muscle biopsy considering the normal aspects of muscle and the common pathological changes using for this some clinical cases as examples. Muscle biopsy has been part of the diagnostic workup in patients with neuromuscular diseases since the 1960s. Although diagnostic algorithms for some muscle diseases have changed with the advances in genomics, we will discuss how muscle biopsy can evolve and be part of this new era.
Dr. Teresinha Evangelista (Presenter)
Sorbonne Université, GHU Pitié-Salpêtrière Hospital, AP-HP, Paris, France
16:30
In patients presenting with limb girdle weakness, there is a wide range of inherited and acquired diagnosis that should be considered.
Limb-girdle muscular dystrophy is the first group consisting of inherited disorders with progressive weakness of muscles around the hips and shoulder, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Helpful clinical features that help to differentiate the > 20 subtypes include: predominant upper girdle weakness, disproportionate respiratory muscle involvement, distal weakness, hip adductor weakness, calf hypertrophy, contractures and cardiac involvement. Other genetic myopathies presenting with limb girdle weakness are (late-onset) Pompe disease, facioscapulohumeral muscular dystrophy and Becker muscular dystrophy. While there are no treatments which directly reverse the muscle weakness associated with these inherited condition, supportive treatment can decrease the complications.
The second large group of causes of limb girdle weakness are acquired myopathies, including inflammatory myopathies, toxic myopathies and myopathies caused by endocrine disturbances. In elderly patients, there is often a combination of acquired causes leading to gradually progressive limb girdle weakness.
Finally, a number of non-myopathic causes should be considered, including auto-immune neuromuscular junction disorders (Lambert-Eaton myasthenic syndrome) and plexopathies (neuralgic amyotrophy), motor neuron diseases and peripheral nerve diseases (such as CIDP_ The disease course and pattern of additional symptoms (sensory disturbance, hyperreflexia) are important clues to the localization and etiology. The treatment possibilities of these two latter groups depend on the specific etiology.
Prof.Dr. Nicol Voermans (Presenter)
Radboud University Medical Centre
17:30
Distal myopathies are primary muscles diseases due to mutations in over 20 genes. The clinical presentation at the onset includes a weakness of the muscles of the forearm, hands, lower leg or feet. However, the age of onset, clinical presentation, disease progression, muscle involvement, and histological findings are extremely variable.
An increasing number of genes and variants associated with a distal myopathy have been recently identified. Moreover, different variants in the same gene may cause either dominant or recessive forms. Currently, we are without a comprehensive understanding of the genotype-phenotype correlations.
We will cover the genetic and clinical features of distal myopathies, highlighting the most recently identified forms. We will also review their pathomechanisms and the current steps towards a diagnosis, using the most advanced methodologies. Finally, we will discuss the main technical and interpretative challenges.
Dr. Marco Savarese (Presenter)
Folkhalsan Institute of Genetics - University of Helsinki
18:15
Dysfunction of the respiratory system typically causes hypercapnic and hypoxic respiratory failure with variability in degree, progression, and clinical symptoms. In contrast to lung diseases with altered perfusion and/or diffusion, most neurological conditions affecting ventilation are caused by an impaired breathing pattern and/or insufficient respiratory muscle pump function, which results in acute, chronic, or acute-on-chronic hypercapnia at first and hypoxemia at later stages. Thus, for an early and correct diagnosis and sufficient treatment, knowledge of the origin of hypoventilation is essential. Depending on the disease, respiratory dysfunction can occur on one or more levels: central neurons including the upper motor neuron and specialized respiratory pacemaker neurons, lower motor neurons, peripheral motor nerves, the neuromuscular junction, thoracic compliance including skeletal deformities, and the muscle itself. The Pre-WMS teaching course on respiratory weakness will highlight typical neuromuscular disorders with respiratory impairment, recommended diagnostics, and treatment.
Dr.Med. Stephan Wenninger (Presenter)
Friedrich-Baur-Institute
19:00
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 mobilized 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 can be utilized for NMDs; more specific protocols for ALS, SMA and hypertonic UES in OPMD have been published. However, a recent survey highlighted the absence of defined protocols for evaluation and training of neuromuscular dysphagia in different European Centers, and guidelines are necessary in the future to reduce delayed diagnoses and treatment.
Prof Tiziana Enrica Mongini (Presenter)
Neuromuscular Diseases Unit
20:00
Fatigue is one of most vexing complaints that a physician needs to address and is common to nearly all diseases, which can make diagnosis and effective treatment a challenge. Two broad categories of fatigue have been proposed. One is the objective reduction of muscle force generation leading to compromise of physical performance over time. The best examples of such are seen with neuromuscular transmission disorders and metabolic myopathies, but also cachexia produced by cancer or normal aging. Two is perceived fatigue, which an individual’s experiences a sensation that they need to expend greater energy to perform typical activities. Here, the fatigue experienced by patients with Parkinson’s disease and multiple sclerosis comes to mind, in which the degree of objective deficit is not matched by complaints of fatigue. Research in this area is compromised by the difficulty in development of outcome measures to differentiate the complex nature of fatigue in a patient-centric manner. The presentation will provide broad background on the definition and causes of fatigue with a particular focus on myasthenia gravis, which manifests with neuromuscular and perceived fatigue.
Henry J. Kaminski
George Washington University, United States
21:00
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.
Karim Wahbi (Presenter)
Paris Cité University, France
