Blog Archives
Two new genes in Charcot-Marie-Tooth disease
The gene for a seventh aminoacyl-tRNA synthetase has just been implicated in axonal dominant Charcot-Marie-Tooth disease (CMT) thanks to whole exome sequencing of three unrelated individuals: this is asparaginyl-tRNA synthetase (NARS1); the functional study showed that it is a loss-of-function mutation. A homozygous variant affecting the splice site of the NDUFS6 gene, which encodes a … [Read more]
Adult mitochondrial myopathy: very slowly progressive muscular damage of the limbs, often associated with multisystem damage and high mortality
A retrospective study at the Mayo Clinic in Rochester (Minnesota, USA) was based on 94 cases of mitochondrial myopathy diagnosed in adulthood and followed up between 2005 and 2021: the mean time between the first signs and diagnosis was 11 years and the median age at diagnosis was 48 years (range 32 to 63 years); … [Read more]
A new tool for assessing swallowing disorders in young children with SMA
German clinicians were interested in the swallowing disorders present in young patients with SMN1-related proximal spinal muscular atrophy (SMA), treated or untreated, and relatively unexplored until now: the target population consisted of young children with SMA aged between 0 and 24 months, after using the main existing tools and interviewing a panel of experts, the … [Read more]
Virtual reality tele-rehabilitation is feasible and effective in DMD and BMD
Spanish researchers have investigated the usefulness of virtual reality in the remote rehabilitation of 12 walking children aged between 5 and 15 suffering from Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD). Although they had already undergone a conventional rehabilitation programme, the results of new training via a virtual platform twice a week (30 … [Read more]
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]
