Myotonic dystrophy type 1 is one of the most common hereditary disorders, but is often recognized too late. The biennial international conference in De Vereeniging in Nijmegen brings together the complete international network of everyone active in the world of myotonic dystrophy. It is the platform where new insights, research results, new developments, trials and treatments are shared. Finally, there is a Patient Day where patients with myotonic dystrophy and their loved ones will also be informed.
More knowledge and recognition of the symptoms and a rapid diagnosis are now extra important for patients, because there are promising developments that can tackle this disease at its root. Nijmegen researchers see possibilities for medicines that focus on the cause instead of the symptoms. They will share details of their progress during the conference.
14th International Congress Myotonic Dystrophy (IDMC-14)
The 14th International Myotonic Dystrophy Congress (IDMC-14) is the largest conference on myotonic dystrophy (MD) in the world. From April 9 to 13, 375 experts will gather from all over the world, including scientists, doctors, healthcare providers, patients, patient representatives and the pharmaceutical industry.
Research: New and old medicines
During the conference, promising results from clinical research with innovative medicines that tackle the hereditary defect at its cause will be presented. The approval of these often expensive medicines will take several years, which is why attention is also being paid to the use of existing medicines that can relieve certain symptoms. Examples of this are the anti-diabetes drug metformin, which can improve muscle strength, and tideglusib, a drug that was originally developed for Alzheimer’s and now appears to remedy behavioral problems in children and (young) adults.
In the SIMPATHIC project, led by researchers from Nijmegen, this research into the reuse of old medicines is being scaled up. In SIMPATHIC, a new technology is used to test existing drugs in patients with various conditions, such as MD. For this they only need a tube of blood or a very small piece of skin from the patient. The stem cells from this are grown into nerve cells. The researchers then test how these cells respond to all kinds of existing medicines. If there is a positive effect, a study is immediately started with patients with the same symptoms.
This method can lead to accelerated use of medicines for (individual) patients with rare conditions for whom there are currently few or no available treatment options. And because existing medicines have already been tested in humans, animal research is often not necessary. This greatly accelerates the use of medicines for new applications and reduces research costs. (more about this study here).
Hereditary muscle disease with many faces
The problem with MD is that the symptoms and severity vary enormously between patients.
The symptoms differ per generation, occur earlier and become increasingly worse per generation. In newborns you often see extreme weakness in muscles, which makes the baby feel limp and weak. This causes them to have difficulty breathing and drinking. They also usually develop much more slowly than their peers.
Slightly older children often suffer from learning and/or behavioral problems, gastrointestinal complaints and fatigue. This means you don’t immediately think of a muscle disease. These children can also often appear disinterested due to reduced initiative.
In adulthood, the disease is characterized by muscle spasms, for example after opening a jar where the fingers remain cramped (myotonia) and increasing muscle weakness (dystrophy). The heart, lungs, gastrointestinal tract, eyes (cataract) and brain may also be affected. This can manifest itself in a wide range of complaints such as cardiac arrhythmias, reduced breathing and coughing power, nocturnal breathing disorders, gastrointestinal complaints, cataracts at a young age (< 50 years), fatigue, extreme daytime sleepiness, reduced initiative, difficulty translating words. in actions and reduced insight into illness.
Older people often suffer from cataracts, but may have already shown symptoms earlier in their lives that were attributed to other diseases, such as excessive intestinal discomfort, heart disease, etc.
Importance of recognition
The complexity of MD and the variation in symptoms make it difficult to recognize the disease. Even healthcare professionals often do not recognize the symptoms, because they often see them in isolation. As a result, patients arrive late at the right specialist, while an early diagnosis is important to quickly implement treatment, appropriate care and guidance. In addition, it is now possible to prevent the condition from being passed on to the next generation.
Recognizing the complaints and especially the family story helps – as a doctor, teacher, psychologist, physiotherapist, ophthalmologist – to recognize the symptoms and therefore receive a diagnosis more quickly.
Family drama
Once myotonic dystrophy has been diagnosed, the entire family can be tested for the specific gene change on chromosome 19. This means that the abnormality in this gene can also be found in other family members, such as parents, brothers, sisters, grandfathers, grandmothers, aunts, etc. uncles, (great)nephews, (great)nieces, etc., because these could also be ‘carriers’. Myotonic dystrophy can suddenly manifest itself in an entire family. It also happens that the diagnosis is known in a family branch, but this is not shared, often out of a form of shame.
Guilt towards the next generation is often felt when someone turns out to be a ‘carrier’ later in life. For example, a grandfather turned out to have a milder form, but this was only discovered after the birth of his seriously affected grandchild. The grandchild showed extremely weak muscles after birth. This gave reason to conduct research. This revealed MD.
Patient day
The international conference will conclude on Saturday, April 13, with a Patient Day. The Patient Day is organized by the Muscle Diseases Netherlands patient association in collaboration with the Princess Beatrix Muscle Fund, MD Netherlands, the MD Expertise Center (collaboration between Radboud University Medical Center and MUMC+*) and the Muscles for Muscles Foundation.
For more information, registration and the program for adults and children, visit the website https://www.spierverzekeringen.nl/spieracademie/ or our Agenda
For more information about the IDMC-14 Congress, see IDMC-14 2024 (English).
*Radboudumc and Maastricht UMC+ work closely together in various areas in the Academic Alliance. For MD they work together in the Expertise Center for Myotonic Dystrophy.
Tags: #14th International Congress Myotonic Dystrophy brings hope treatment insights Nijmegen researchers Patient day
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