Myology research highlights
RSS feedBrain abnormalities in SMA?
Canadian researchers have compared the brain imaging of patients with spinal muscular atrophy (SMA) treated with risdiplam or nusinersen with those of people without the disease: 21 SMA patients with an average age of 17.5 years were included in the study, compared with a control group of 21 people who did not have SMA, 43% … [Read more]
CGG expansions in LRP12 implicated in hereditary peripheral neuropathies
A search for CGG repeats in the LRP12, GIPC and RILPL1 genes in 1555 cases of hereditary peripheral neuropathy without a genetic diagnosis found 44 cases of CGG repeats in the LRP12 gene (and none in the GIPC and RILPL1 genes): the number of CGG repeats, less than 100 in 93.2% of cases, ranged from … [Read more]
Sertaline intake may suggest metabolic myopathy
Canadian specialists have reported two cases of secondary mitochondrial disruption following the use of sertaline (Zoloft®), a widely used anti-depressant: the two patients were aged 22 and 61 respectively, and were suspected of having myopathy linked to multiple acyl-coA dehydrogenase (MADD) deficiency, This was due to chronic fatigue and metabolic abnormalities (carnitine deficiency and disturbed … [Read more]
Bulbar 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]
