September 15: World Myotonic Dystrophy Awareness Day
September 15, 2024 marks the 4th International Myotonic Dystrophies Awareness Day. This event, supported by over 60 organizations worldwide, aims to raise awareness among the general public, healthcare professionals and political decision-makers of the need to improve diagnosis, care and support for patients, and to speed up the development of medicines. The AFM-Telethon, which brings together French patients affected by these diseases, is committed to speeding up research. This new edition focuses on two specific areas in particular: raising awareness and educating clinical care teams, and preparing participants for clinical trials.
Myotonic dystrophies: multisystem diseases
Myotonic dystrophies, including myotonic dystrophy type 1 (DM1 or Steinert's disease) and myotonic dystrophy type 2 (PROMM), are rare, progressive genetic diseases. They are characterized by muscle weakness (dystrophy) and difficulty in releasing muscles after contraction (myotonia). These diseases affect several organs, including the heart, eyes, respiratory, endocrine and digestive systems, due to disruption of the expression of numerous proteins caused by abnormal DNA sequences.
Breakthroughs in Research
Myotonic dystrophy type 1 (or Steinert's disease) is one of the most common neuromuscular diseases in adults. It is estimated that one person in 8,000 is affected, which, on a French population scale, would correspond to 5,000 to 8,000 sufferers living in France.
Type 1 and 2 myotonic dystrophies are considered complex, but research into treatments is accelerating.
At the Institute of Myology, the REDs team, led by Geneviève Gourdon and Denis Furling, is working on myotonic dystrophies, and in particular on DM1 (Steinert's disease). In collaboration with Guillaume Bassez's team, which coordinates the DM-Scope national myotonic dystrophy registry, their mission is to develop innovative therapeutic solutions for patients.
Their work aims to integrate all stages of research: from genetic mutation to understanding pathophysiological mechanisms through cellular models, to the development and evaluation of therapeutic approaches, then on to setting up clinical trials for patients suffering from this neuromuscular disease.
The Steinert Interest Group: united around the same pathology
To improve care, speed up research and encourage exchanges between peers, the AFM-Téléthon has created Interest Groups, which bring together patients and their families affected by the same disease. The Steinert Interest Group, dedicated to myotonic dystrophies type 1 (Steinert disease) and type 2 (PROMM), plays a key role in providing support and reliable information to patients and their families. It also facilitates exchanges between peers, helping to break the isolation often felt by families.