Myotonic dystrophy
RSS feedMexiletine is rarely prescribed in France for myotonia in children
The network of French specialists in childhood myotonia was mobilised to find out how often and in what ways mexiletine is prescribed, even though it has marketing authorisation for adult patients suffering from myotonia, whether dystrophic or not: 34 centres responded to the survey, two of which were not treating children with myotonia, 461 children … [Read more]
The main causes of death in Steinert disease
Researchers have examined the causes of death in 1,021 patients with Steinert’s disease (or myotonic dystrophy type 1) in the United Kingdom. – The main causes of death were cardiac (rhythm and conduction disorders) and respiratory (respiratory failure, inhalation pneumonitis, etc.), which are known complications of the disease. – Although deaths from cancer appear to … [Read more]
Three clinical trials underway in France for Steinert disease
Clinical research into Steinert disease (or myotonic dystrophy type 1 – DM1) is currently benefiting from a new positive impetus, in which France is playing a full part: Promising new results from the phase I/II ACHIEVE trial evaluating DYNE-101 have been announced in a press release. They confirm the trends presented in previous press releases, … [Read more]
Use 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]
