Blog Archives
A harness to support the mobility of young SMA patients
US physiotherapists have tested a support harness linked to pulleys and a metal frame to facilitate the child’s movements in the three planes of space at home: 32 children with SMN1-related proximal spinal muscular atrophy (with 2 or 3 copies of the SMN2 gene) aged on average 2.9 years took part in this prospective study, … [Read more]
Update of recommendations on musculoskeletal rehabilitation in neuromuscular diseases
Initially drawn up in 2001, the recommendations for good practice on rehabilitation of the musculoskeletal system in neuromuscular diseases have been updated in a therapeutic context which has changed considerably over the last two decades with : the arrival of new biotherapies, the introduction of graft-free spinal instrumentation and new technical aids, and exercise training, … [Read more]
MFM and MRI of the thighs are the assessment tools most sensitive to changes in BMD
In order to define parameters for monitoring and evaluating Becker muscular dystrophy (BMD) that could be used in clinical trials, a Belgian team conducted a study in 21 BMD patients over 18 months. Changes in muscle magnetic resonance imaging (MRI), patient-reported criteria (ActivLim, SF36), numerous clinical evaluation criteria, including motor function measurement (MFM), muscle strength … [Read more]
A Canadian survey highlights the very varied levels of knowledge of many adult neurologists regarding corticosteroid therapy
Adult neurologists specialising in neuromuscular diseases often prescribe long-term corticosteroids, particularly for autoimmune diseases (myositis, myasthenia gravis, etc.): an online survey of 99 Canadian neurologists practising in their country of origin or elsewhere was carried out, analysis of the responses from the 71 actual participants revealed shortcomings both in the screening of patients before starting … [Read more]
M&M’s – Muscle Monday Seminar – 29 avril – Pierre Klein (UK)
m6a RNA methylation orchestrates IMP1 regulation of microtubules during human motor neuron differentiation 29 April 2024 – from 12 to 1 pm Pierre Klein, PhD (Postdoctoral Fellow at UCL and Francis Crick Institute, London UK) Hosted by Capucine Trollet More information on the presentation and the speaker On prior registration for people outside the Institute of … [Read more]
Brody’s disease: reducing diagnostic delays by identifying mowing in childhood
As Brody’s disease is often diagnosed in adulthood, even though discomfort may have been present since childhood, a Dutch team has reviewed the observations of nine children, aged between 4 and 16, with an anomaly in the ATP2A1 gene, which is implicated in this pathology. Although their muscle mass and strength were normal, and some … [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]
A promising aldose reductase inhibitor in SORD-related neuropathy
Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It is involved in the transformation of sorbitol (toxic to nerves if accumulated in excess) into fructose. A European and American Phase III placebo-controlled clinical trial is evaluating AT-007, an aldose … [Read more]
Chinese study highlights importance of cognitive impairment in myasthenia gravis
The existence of cognitive disorders in autoimmune myasthenia is still debated. Chinese researchers have investigated this question using a battery of tests: 41 patients with a generalized form of myasthenia participated in a study that also included a control group of 45 people matched for gender, age and education level, the protocol consisted of neuropsychological … [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]
