Myotonic dystrophy
RSS feedAdvances in myotonic dystrophy type 2Â – June 2024
DM2 mainly affects the muscles but can also impact other organs to a greater or lesser extent. It is very similar to another more common neuromuscular disease called myotonic dystrophy type 1 (DM1). Muscles decrease in volume, become weak (dystrophy) and have difficulty relaxing after they contract (myotonia). DM2 is a âmultisystemâ disorder, meaning it … [Read more]
The neuropsychological profile may also be modulated by the environment in DM1
The neuropsychological assessment and brain MRI of two young women, monozygotic twins aged 29 with Steinert disease, showed slight differences: although they both have normal IQs, one has more difficulty with emotional functioning, while the second has difficulty with social cognition; the latter had grey matter atrophy in an additional area of the brain compared … [Read more]
Appropriate use of mexiletine in myotonic dystrophy: a consensus in France
Experts in Steinert disease (DM1) have just produced recommendations concerning the use of mexiletine, a class I anti-arrhythmic agent which may improve the lack of muscle relaxation (myotonia): three neurologists and five cardiologists took part in the working group, data from the literature and experience gained from prescribing this drug off-label were taken into account, … [Read more]
Classical form of Steinert’s disease: 3 possible different cognitive profiles
Cognitive impairment may occur in the adult-onset form of Steinert disease. This can vary greatly from one person to another. A study from Lille characterised cognitive impairment in 124 adult patients aged between 19 and 73: Their work revealed three types of cognitive profile, which seemed to be influenced by age and the time elapsed … [Read more]
AOC 1001 in DM1: positive data after one year of treatment in the MARINA trial
The MARINA trial is a double-blind, placebo-controlled Phase I/II trial which evaluated AOC 1001 for six months in Steinert’s disease (or DM1). It was followed by an open-label extension, the results of which were announced at the Muscular Dystrophy Association congress in March 2024. After one year of treatment, they confirm the preliminary results previously … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-TĂ©lĂ©thon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Results of phase II trial testing erythromycin in DM1
Based on its efficacy in a mouse model of Steinert’s disease (DM1), a Japanese team evaluated erythromycin (MYD-0124) against placebo in 30 DM1 patients treated for six months. The treatment was well tolerated. Two out of eleven biomarkers (splicing abnormalities of the MBNL1 and CACNA1 genes) were improved in the treated group compared with the … [Read more]
DYNE-101 trial in Steinert disease: preliminary results announced
Dyne Therapeutics, the company developing the antisense oligonucleotide DYNE-101 for Steinert disease, has published initial results from its ongoing ACHIEVE trial. This is a Phase I/II trial starting with a dose escalation phase. The treatment appears to be well tolerated at all three doses tested. Improvements in myotonia and in the Myotonic Dystrophy Health Index … [Read more]
Compliance with non-invasive ventilation is not related to respiratory parameters in DM1
Dutch researchers studied compliance with non-invasive mechanical ventilation (NIV) prescribed as part of respiratory management for patients with Steinert’s disease (DM1). 101 patients who had been prescribed this equipment were monitored for at least one year, at the end of the year, 58 of them showed little or no compliance, these results being in line … [Read more]
