News items Result study shows improvement in social participation and activity in Myotonic Dystrophy patients measurable in blood

28 February 2023

Patients with the rare disorder Myotonic Dystrophy often have difficulties participating in society. The OPTIMISTIC clinical trial, conducted by several centers and coordinated by Baziel van Engelen, neurologist at Radboudumc, showed that cognitive behavioral therapy can significantly improve the activity and social participation of myotonic dystrophy patients.

Blood test

More recently, researchers from Radboudumc’s department of Medical Biosciences and Neurology found that Myotonic Dystrophy leaves a molecular fingerprint of some 600 gene products in the blood that are indicative of the severity of the disease. As a result of successful therapy, around 100 genes from this fingerprint returned to levels that are more similar to those in healthy people. These findings were confirmed in another group of myotonic dystrophy patients. 

Researcher Peter-Bram 't Hoen said, "Our findings support the utility of using blood to track disease-relevant changes in myotonic dystrophy and other muscle disorders. This is going to help us to objectively determine the effect of lifestyle or drug interventions. It is a small but critical step in the development of treatments for myotonic dystrophy patients."  

Myotonic Dystrophy

Myotonic dystrophy type 1 (DM1) is a genetic disorder impacting several body systems. It occurs in one in every 8,000 people. It is characterized by progressive weakness and loss of muscle and a number of other symptoms, including severe fatigue, apathy, cataracts, and insulin resistance.

Cognitive Behavioral Therapy

Cognitive Behavioral Therapy is a form of psychotherapy in which patients learn to cope better with their disease symptoms. Often, this has positive effects on patients' physical activity and fatigue as well as their participation in society.

Publication

The results of the study have been published, "Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood," in BMC Medicine (November 2022)

More information


Margie Alders

persvoorlichter

+31622421639
send an email

Related news items


Renee Salz wins prize for best presentation

10 May 2022 Renee Salz won the award for best oral presentation during the Rolduc genetics retreat, organized by the Dutch and Belgian Societies of Human Genetics in Brugge. Her presentation was titled "Variant effect prediction based on long read transcriptomes". read more

Large NWA ORC grant awarded for national skin research: Next Generation ImmunoDermatology

23 March 2022 Research for better treatment methods for chronic skin diseases. read more

Novel high-resolution targeted sequencing of the cervicovaginal microbiome published in the Journal of BMC Biology

28 December 2021 This project of William Melchers, Karolina Andralojc and Mariano Molina describe a novel sequencing method to profile the cervicovaginal microbiome at the species level and with the potential to elucidate the role of the microbiome in hrHPV-induced carcinogenesis. read more

DeepRank: a deep learning framework for data mining 3D protein-protein interfaces

8 December 2021 Li Xue and colleagues recently published ''DeepRank, a deep learning framework for data mining 3D protein-protein structures'' in Nature Communications. read more

Sponsor walk Prinses Beatrix Spierfonds

28 October 2021 CMBI researchers Sylvia Nieuwenhuis, Nawel van Lin, Paul Blom and Peter-Bram 't Hoen raised money for the Prinses Beatrix Spierfonds. read more

Towards molecular therapies for Myotonic Dystrophy

1 October 2019 ReCognitION, a new 1.3 M€ European project under the leadership of Peter-Bram ‘t Hoen, Baziel van Engelen and Jeffrey Glennon, was kicked-off in Gent. read more