Myology research highlights
RSS feedBulbar impairment in Pompe’s disease better described
Thanks to the national Pompe disease registry, French clinicians are now describing more precisely the bulbar impairment and its repercussions in Pompe disease. Out of 100 patients with the late form of the disease followed in 17 French hospitals : 18% had macroglossia and 11% atrophy of the tongue. 32% had swallowing problems associated with … [Read more]
A severe form of myopathy linked to HNRNPA1 is possible in children
The case of a little girl has overturned the reputation of adult diseases with phenotypes linked to mutations in the HNRNPA1 gene (amyotrophic lateral sclerosis, hereditary myopathy with bordered vacuoles associated with Paget’s disease or distal myopathy with bordered vacuoles): between the ages of 3 and 5, she developed generalised muscle weakness and atrophy affecting … [Read more]
Proof of concept for base editing in Pompe disease
Base editing is a new genomic editing technique based on the CRISPR-Cas9 system, which makes it possible to modify just one target nucleotide in a gene. To demonstrate its value in Pompe disease, American researchers identified three mutations in the GAA gene that could be corrected using this approach and tested it on cells taken … [Read more]
The type of muscle damage has no influence on the prognosis of scleroderma
A multicentre retrospective study of 71 scleroderma patients who had undergone muscle biopsy found 46.5% with fibrosing myopathy, 25.5% with inflammatory myopathy and 28% with autoimmune necrotising myopathy. During follow-up, which averaged 6.4 years, 21 patients died, mainly from cardiovascular disease (39%) or infections (29%). The survival rate 10 years after the appearance of the … [Read more]
Gene therapies and liver toxicity: an update
French and Belgian hepatologists from the Association Française pour l’Etude du Foie (AFEF) (French Association for the Study of the Liver) have taken stock of what is known about the liver toxicity observed with certain gene therapies used in particular for hereditary diseases: a fairly exhaustive inventory of gene therapy products and the diseases concerned … [Read more]
A partial epidemiology of neuromuscular diseases in the Netherlands
Dutch researchers have carried out a major epidemiological study to determine the prevalence and incidence of the main neuromuscular diseases in their country: incidence was calculated using health data from two registers, one supplied by the network of neuromuscular reference centres (CRAMP register) and the other maintained by the Dutch neuromuscular patient association, using a … [Read more]
A US working group on the challenges and safety of gene therapy for neuromuscular diseases
At the initiative of the Muscular Dystrophy Association (MDA), American experts have reviewed the successes and difficulties encountered with gene therapies mediated by adeno-associated viruses, for all neuromuscular diseases combined: this work brought together 47 clinicians and researchers, 41 representatives of the pharmaceutical industry involved in the field and 11 patient representatives, an exhaustive review … [Read more]
A study of the relationship between ambulation loss and the impact of corticosteroids on growth in DMD
The UK consortium dedicated to Duchenne muscular dystrophy (DMD) reports the results of a retrospective study designed to investigate a possible link between the side-effects of long-term steroid administration on weight and height curves and the age of loss of ambulation: the clinical and anthropometric data of 648 children with DMD selected from the UKNorth … [Read more]
Towards a better understanding of genotype/phenotype correlations in DMD
American clinicians studied a large cohort of children followed at the only neuromuscular consultation in Cincinnati (USA) for Duchenne muscular dystrophy (DMD): 555 patients were included in the study, All were receiving long-term corticosteroid therapy (at least 12 months), but without any associated innovative therapy, age at loss of walking was chosen as the main … [Read more]
A case of immune-mediated necrotizing myopathy mimicking FSHD
Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD): the patient suffered from a progressive asymmetric muscle deficit that had appeared three years previously, with associated facial weakness, treatment with statins had been started following a stroke which had resulted in paresis … [Read more]
