Marianne de Visser: Adult Neurologist and Emeritus Professor of Neuromuscular Diseases, Amsterdam University Medical Center, the Netherlands; Steering Committee, International Congress on Neuromuscular Diseases (ICNMD)
Citation: EMJ Neurol. 2026; https://doi.org/10.33590/emjneurol/A00L46B9
Looking at the International Congress on Neuromuscular Diseases (ICNMD) 2026 Scientific Programme, which themes or developments in neuromuscular medicine stand out to you as particularly important, and why?
I was pleasantly surprised by the programme. When I look at the programme, it covers myopathies, neuropathies, neuromuscular junction disorders, motor neurone disease, childhood and adult disorders, and acquired and hereditary diseases: there are so many topics to address. But I also see an emphasis on early diagnosis with biomarkers, on therapy, and on multidisciplinary treatment, which is very important for a group of diseases for which there is usually no curative treatment. And I’m very happy that there is a session on supportive and palliative care, as well as a talk that is close to my heart about women’s neurology. That includes aspects such as planning pregnancy. The example that will be discussed is myasthenia gravis, because those patients often have very fluctuating symptoms. They are sometimes treated with drugs that are not recommended during pregnancy, and neonatal outcomes may be variable. So, it is very important to plan pregnancy. Those are the themes that I recognise, and they are very, very important.
Are there any topics that you would wish to highlight more at next year’s Congress?
Pain and fatigue are very important complaints. There is something about pain and neuropathies, but as a more general overarching theme I would like to see that addressed. There is lots of information about upcoming trials, but I would also have liked to see some more general information about clinical trials. But it is really a comprehensive programme. It expands every year.
Your research has contributed to our understanding of cognitive and behavioural impairment in amyotrophic lateral sclerosis (ALS). To what extent has the field now moved beyond viewing ALS as a purely motor disorder, and do misconceptions still affect how patients are assessed and supported?
I think there is much more attention now on behavioural and cognitive impairment in ALS, and it is part of the guidelines. We do know that frontotemporal dementia is found in around 10–15% of cases; we have done quite a lot of research on this. About 30–50% of patients with ALS have behavioural and/or cognitive disturbances. It is very easy, if there is a patient in front of you, to see whether he or she has dementia. However, I must admit that I have not always picked up the milder frontotemporal disturbances in patients. For that, you do need a neuropsychological assessment for cognitive disturbance and specific behavioural assessment tools. We actually developed one, the ALS-Frontotemporal Dementia Questionnaire, which is completed by the proxy. When you see a patient in the clinic, it can be very difficult, but when you specifically assess behaviour and cognitive impairment, it is possible to recognise these disturbances. It is also very important in compliance with treatment, for instance, and in helping family and carers to understand what is going on and support the patient appropriately. So, I think there has been an improvement in this area.
At ICNMD 2026, you will chair the teaching course ‘Practical Approach to Myology Phenotypes’, including discussion of new guidance on asymptomatic hyperCKaemia. What are the most important updates clinicians need to incorporate into routine practice?
It is very important to identify treatable diseases. A few recommendations are targeted specifically at that. For instance, providing blood spot testing to recognise Pompe disease at an early stage, because there is often a mismatch between respiratory involvement and limb involvement, and you want to identify respiratory involvement at an early stage and start enzyme replacement therapy as soon as possible. The same applies to other metabolic disorders. It is very important to identify these disorders, not only for patients, but also for genetic counselling, for instance. One of the main differences between this guideline on hyperCKaemia and the one that was published 16 or 20 years ago is that next-generation sequencing is now a first-tier investigation, whereas muscle biopsy remains important but is now a second-tier investigation. However, muscle biopsy still has a place because sometimes there is not a clear result from genetic testing, or there is a variant of uncertain significance, or something like that.
You will also be speaking about mental health in muscle disorders. As treatments improve and patients live longer with neuromuscular conditions, do you think psychological and psychiatric needs are receiving sufficient attention within neuromuscular care?
There is relatively more attention for this now. Around 1 or 2 years ago, there was a European Neuromuscular Centre (ENMC) workshop specifically on this topic, and there is increasing attention on it in the literature as well. But there could be more. I am no longer in active clinical practice, but when I was, I would not routinely raise questions about the challenges patients experienced. We paid a lot of attention to the physical aspects, but not so much to the social and emotional aspects. I knew everything about the family, but I did not ask enough about the challenges faced by the family or about the patients’ own challenges. I knew that work was often difficult, but I did not screen for anxiety, and I did not screen for depression. We now know that both are present in perhaps 20–30% of cases of all the major neuromuscular diseases, and that we can adequately address and treat them with either cognitive behavioural therapy or pharmacological treatment, for instance, selective serotonin reuptake inhibitors. We also need to support the family in case of anxiety attacks or depression. So, it is beginning to receive attention, but it needs to have its proper place alongside our attention to the physical condition. With regards to quality of life, we know that patients can have a very good quality of life even when they are wheelchair-bound. That is the disability paradox.
As a co-author of the ADAPT study, which investigated diagnostic strategies for idiopathic inflammatory myopathies, in your opinion, where do the biggest diagnostic uncertainties in idiopathic inflammatory myopathies still remain?
In 2017, classification criteria were developed because there are many subgroups of myositis. But we have found that there is now new knowledge regarding autoantibodies, imaging data, muscle biopsy findings, and so on. That is the reason there is now a project to develop new classification criteria. I think the main problem remains diagnosis, which is important because, if we know the diagnosis, we know how to treat the patient. The second problem is that there are still insufficient therapies. There have only been a handful of clinical trials, so that has to improve. We have to become more like the rheumatology community. This is both a rheumatological and neurological field, but if you look at rheumatoid arthritis, for example, there has been enormous progress. For myositis, that is still a bridge too far.
Looking across the ICNMD 2026 programme, which developments do you think are most likely to shape neuromuscular practice over the next 5 years?
I would like to start with AI, although it is still a bit uncertain what we can expect from it. It has a prominent place in the Congress, and it may help us with natural history studies, differential diagnosis, interpretation of genetic data, and especially interpretation of all the omics data and long-read sequencing data, because the volume of information is enormous. I also noticed that AI is being used to predict myasthenic crises, and that is very important because these patients may end up in intensive care. I think next-generation sequencing will provide us with more disease genes so that we can identify new disease entities. I also think it is very important that we continue to develop biomarkers for early diagnosis, to monitor natural history, and to monitor patients during clinical trials. There is a huge range of biomarkers. For instance, in ALS, it is very important to identify presymptomatic carriers with a SOD1 mutation because there is treatment available for that now. Neurofilament light is a biomarker that may be very helpful. Imaging, including MRI, is another example. This is not only true for ALS; it also applies to many other diseases. And as I mentioned earlier, multidisciplinary treatment, women’s neurology, and also gender differences are topics that are very close to my heart. We know from many neurological diseases that there are clear differences between genders. For instance, women with Parkinson’s disease can have a very different phenotype compared with men. There are also differences in dementia. I am sure this is also true for neuromuscular disorders, but we need to carry out more research. It has not yet received sufficient attention.
