Myology research highlights
RSS feedAn 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]
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]
An ancillary study of the ginivostat trial in Becker myopathy looking for more objective criteria
The primary endpoint for evaluating ginivostat in Becker muscular dystrophy is the change in fibrosis on muscle biopsy after one year of treatment. Based on the data collected at the initial visit of this trial, an Italian and Dutch team looked for correlations between the measurement of the fat fraction of the whole thigh and … [Read more]
A promising technique to study muscle fibrosis at the cardiac level
French researchers from Nantes have developed a new technique for 3D visualization of muscle fibrosis based on automated image analysis (known as second harmonic generation or SHG) coupled with the study of histological sections of heart muscle: the dystrophin-deficient rat, model for Duchenne muscular dystrophy, and control rats were used to validate it; fibrotic lesions … [Read more]
A first positive assessment of the Japanese myotonic dystrophies registry
Steinert’s disease or myotonic dystrophy type 1 (DM1) is, in Japan as elsewhere, one of the most common neuromuscular diseases, especially in the adult population. The census of patients is carried out in Japan through the national neuromuscular registry called Remudy: the sub-registry devoted to myotonic dystrophies (DM) created complies with international standards as laid … [Read more]
A cohort of patients with DMD with exon 2 duplication
Duplications of the DMD gene encoding dystrophin are rare and represent a real therapeutic challenge. An American team compiled the clinical and biological data of 66 patients with this relatively uncommon genotype: 61% of them had a DMD-like phenotype, 30% a Becker-like phenotype and 9% an intermediate phenotype, 3/4 of them were treated with long-term … [Read more]
