Myology research highlights
RSS feedThe French Cannemuss study confirms the efficacy of anti-Covid-19 messenger RNA vaccines in cases of amyotrophy
As the Covid-19 booster vaccination campaign gets underway in France, a new publication of the results of the Cannemuss observational study (supported by the AFM-Téléthon and carried out by Bordeaux University Hospital) shows that : 90.1% of the 33 participants suffering from various neuromuscular diseases that had induced severe muscular atrophy had a serum level … [Read more]
FSHD: searching for the ideal biomarker
British and Dutch researchers have joined forces to discover a possible biological marker for facioscapulohumeral muscular dystrophy (FSHD): in view of the disappointing and/or contradictory results of studies of DUX4 gene expression in FSHD myopathy, the researchers focused their attention on genes repressed by PAX7, another gene involved in myogenesis and also interacting with DUX4, … [Read more]
Poor quality sleep in CMT?
The Italian Charcot-Marie-Tooth registry conducted a study of sleep and sleepiness among more than 250 patients: 56% had poor quality sleep. 23% doze off during the day. these difficulties were correlated with fatigue, anxiety and depression. The authors therefore recommend assessing sleep in people with CMT, as well as related factors such as fatigue and … [Read more]
Camptocormia and a dropped head are poor prognostic factors in certain forms of myositis
An international consortium of clinicians coordinated by the Strasbourg Reference Centre looked at patients with inflammatory myopathy with regard to two uncommon clinical signs: camptocormia and/or head droop syndrome in 49 patients with inflammatory myopathy, their clinical and biological data were compared with those of 98 patients with inflammatory myopathy but without these two signs, … [Read more]
Challenges facing people with primary mitochondrial myopathy
An article on primary mitochondrial myopathies has been published by the Mitochondrial Medicines Society (MMS) and the United Mitochondrial Disease Foundation (UMDF): it highlights and provides information on the challenges faced by people with this disease: visible and stigmatising symptoms that worsen, reduced autonomy, social isolation, lack of treatment, etc. it encourages professionals and patients … [Read more]
The phenotype of patients with SMA carrying 4 copies of the SMN2 gene varies significantly
The Italian ITASMAC network dedicated to spinal muscular atrophy (SMA) studied 169 individuals, children or adults, with a homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, and not treated by innovative therapy: the sex ratio showed a clear male predominance (102/169), 6 patients were presymptomatic children, 8 had type II … [Read more]
A bone marrow tumour discovered late after treatment with Zolgensma®: case report
American clinicians report the observation, unique to date, of a child diagnosed with SMA in the neonatal period and then treated with gene therapy (Zolgensma® or onasemnogene abeparvovec), who presented neurological signs suggestive of spinal cord compression from the age of 14 months: the patient’s genotype was 0 copies of the SMN1 gene and 3 … [Read more]
When smartphones and AI combine to assess myasthenia gravis in real life
UCB and Sharecare conducted a three-month prospective real-life study in the United States involving 82 patients with moderate to severe autoimmune myasthenia gravis. The participants sent selfie videos to the investigators, which were analysed automatically by a margin reflex distance (MDR1) measurement tool developed using an artificial neural network: these measurements proved to be effective, … [Read more]
A study of drug management of neurobehavioural disorders in DMD
A team analysed the medical records (66 prescriptions) of 52 boys with Duchenne muscular dystrophy (DMD), aged 11 on average, who had received drug treatment for neurobehavioural disorders between 2008 and 2022 in two hospitals in Belgium and the Netherlands: the most common neurobehavioural disorders are attention disorders (64%), emotional and behavioural disorders (60%) and … [Read more]
New tools for assessing the follow-up of two forms of muscular dystrophy
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use of functional scores: researchers report, in association with Duchenne muscular dystrophy (DMD) patient associations, the development of an upper limb function scale centred on the needs and feelings of patients … [Read more]
