2/2/2024 0 Comments Dm1 diagnostics" Research shows that there are many different variations of this disease, which can have devastating consequences for families," says Nogales-Gadea. The study revealed that the disease in this family did not progress as predicted for typical DM1 and some members developed the disease later than expected and with more severe symptoms. Researchers used different techniques to examine the fine detail of their mutations. The team studied 49 patients, including some with interrupted DM1, whose symptoms had been carefully described, five of these patients were from a single family. "Our aim is to refine our understanding of how different mutations affect how the disease progresses so that doctors make better diagnoses and can help these families manage the disease and also take important life-changing decisions," explains Alfonsina Ballester-Lopez who carried out much of the work. Until now there was not much information on these different mutations and how they can be used to predict the symptoms an individual will develop. The general thinking has been that patients with interrupted DM1 generally have milder symptoms than cases of uninterrupted DM1. However, there is a group of people for whom the CTG repeats in their genes are not in a continuous chain, but interrupted by other bits of code, this type of the disease is called interrupted DM1. In general the more repeats a person has the earlier the onset and the more severe the symptoms. The disease is caused by mutations on the DMPK (myotonic dystrophy protein kinase) gene, in which part of the genetic code, CTG, is repeated, usually in a continuous chain. Typically the first cases diagnosed are of older people who have milder symptoms, the next generation have inherited more mutations and tend to develop more severe symptoms at earlier ages, often when they already have young children, who are usually the most severely affected of all. Patients with this type can be misdiagnosed as having a different neurological condition, or as it has been generally thought that this form of the disease was associated with mild symptoms.ĭM1 is a genetic disease passed from parents to children and the cases of DM1 tend to get more severe in families carrying the mutations. The study recently published in Human Mutation provides more information on the complexity of diagnosing DM1 and identifies a group of people who could develop DM1 later in life than expected with very severe symptoms that leave them severely disabled. As DM1 is a genetic disease and carried in families it is important identify the mutations that lead to the onset of the disease and understand the exact type patients have to help them manage the effects and provide genetic counselling for other family members. The Neuromuscular and Neuropediatric Group at the IGTP, led by Gisela Nogales-Gadea have identified a subset of patients with an atypical type of myotonic dystrophy type 1 (DM1), which develops later and with more severe symptoms than usual. The study has been published in Human Mutation. It is also vital for managing the disease correctly in patients and their families. This has important implications for diagnosis of these patients, who can be misdiagnosed or not given the correct prognosis. The Neuromuscular and Neuropediatric Group at the IGTP, led by Gisela Nogales-Gadea have identified a subset of patients with an atypical type of myotonic dystrophy type 1 (MD1), which develops later and with more severe symptoms than usual.
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