Myotonic dystrophy
RSS feedUse of psychostimulants to treat daytime hypersomnolence in myotonic dystrophies
A Cochrane review of clinical trials evaluating psychostimulant drugs in myotonic dystrophies was published in November 2024. Six clinical trials were selected, involving 136 participants. According to patient feedback, these drugs may reduce daytime sleepiness, but do not improve quality of life. There were discrepancies between the various trials, making the conclusions uncertain. In addition, … [Read more]
New data on life expectancy in DM2
Of the 125 Dutch patients with myotonic dystrophy type 2 (DM2) recorded in the Dutch neuromuscular database, 26 died between 2000 and 2023 : the median age of these deaths was 70.9 years, compared with a life expectancy for the general population of 78.1 years; the main causes of death were cardiac (31%) and respiratory … [Read more]
15 September: International Myotonic Dystrophy Awareness Day
15 September is International Myotonic Dystrophy Awareness Day. Its aim is to raise awareness on this neuromuscular disease among the medical profession, politicians and the general public, in order to improve diagnosis, care and support for patients, and also to speed up the development of medicines. This 4th edition will place particular emphasis on two … [Read more]
Advances in myotonic dystrophy type 1 – June 2024
This disease, which is also known as Steinert disease, mainly affects the muscles but can also impact other organs to a greater or lesser extent. DM1 is a “multisystem” disorder, meaning it affects several different organs (muscles, the heart, the respiratory system, the digestive system, the endocrine system and the nervous system). Muscles decrease in … [Read more]
Advances in myotonic dystrophy type 2 – 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 “multisystem” 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-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
