Blog Archives
mRNA vaccines in MNM: a satisfactory response despite muscle atrophy
An American team studied the impact of muscle atrophy and corticosteroid therapy on the immune response to messenger RNA (mRNA) vaccines against SARS-CoV-2 in 14 people aged between 20 and 60 with neuromuscular diseases (MNM). Participants were mostly nonambulant (13/14) and had Duchenne or Becker muscular dystrophy (9/14), SMN1-related proximal spinal muscular atrophy (SMA) (1/14) … [Read more]
An inventory of tools used in the assessment of neuromuscular patients
Italian clinicians have compiled data from the literature published between 2000 and 2021 concerning the technological assessment tools used, routinely or during trials, in neuromuscular patients. Four areas are concerned: gait assessment, continuous monitoring of physical activity, assessment of upper limb function and assessment of muscle strength. Some of these tools are more particularly suited … [Read more]
A very rare Kennedy disease genotype in a Norwegian family
Kennedy’s disease is a degenerative disease transmitted in a X-linked recessive mode. The case of two sisters who both inherited two pathological alleles of the gene encoding the androgen receptor (AR) is reported by Norwegian researchers : both sisters had received a pathological allele from their mother, herself a transmitter, and another pathological allele from … [Read more]
Irreversible consequences of temporarily stopping ERT in Pompe disease
Due to the Covid-19 epidemic, 31 patients with Pompe disease had to stop their treatment with enzyme replacement therapy (ERT), alglucosidase alfa or Myozyme®, in eight neuromuscular reference centres in France. Analysis of follow-up data from these patients, compiled in the French Pompe disease registry, shows that: an interruption of ERT, even for only two … [Read more]
International guidelines to improve assessment in MNMs
Clinical assessment is an essential step not only in the follow-up of patients with neuromuscular pathology but also in the context of trials, whether natural history studies or therapeutic protocols. A group of 14 experts, mostly American, English and Italian physiotherapists, came up with recommendations: to advance the reliability and validity of these assessments, in … [Read more]
ERN EURO-NMD webinar, Feb 24th: Pr Rita Horvath (UK)
Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a “Treatabolome” Thursday February 24th, 2022 – 16:00-17:00 (Paris time) Prof Rita Horvath (University of Cambridge, Cambridge Rare Diseases Centre, UK) “Mitochondrial Disorders Thematic Month” Webinar organised by EURO-NMD.
Antisense oligonucleotides targeting the promoter region of the SMN2 gene in preclinical development in SMA
A Chinese team studied the effects of two antisense oligonucleotides targeting a key region of the methylation of the promoter of the SMN2 gene, in cell cultures derived from patients with SMA and in mice with a severe SMA phenotype. The results show that: transcription and overall expression of the SMN protein are improved following … [Read more]
Corticosteroids may improve or stabilize motor function in Fukuyama congenital muscular dystrophy
This is shown by a Japanese prospective study carried out openly in 9 children with an average age of 8.1±2.14 years. One had a moderate form of Fukuyama congenital muscular dystrophy (able to walk), another a severe form (inability to hold his head up) and the other seven could sit up unaided (classic form). Alternate … [Read more]
A new approach to gene therapy for Steinert disease – Interview with Denis Furling
The Denis Furling* team (Paris, France), in collaboration with the Nicolas Sergeant** team (Lille, France), has developed and tested a new approach to gene therapy, a so-called “decoy” approach, for Steinert disease or myotonic dystrophy type 1 (DM1). The strategy is based on the expression of modified proteins that will bind to the pathological expansions … [Read more]
Lower limb exoskeletons: 2 clinical studies starting at the Institute
The rare neuromuscular diseases are characterised, in particular, by a progressive loss of muscle strength. As a result, getting up, sitting down or going up stairs can quickly become difficult. This is why the Institute of Myology, a centre of expertise in the science and medicine of the muscle, has just launched two studies, whose … [Read more]
