Myology research highlights
RSS feedA new natural history study in SMA
An international consortium of clinicians with expertise in SMA reports new natural history data in this disease: the study population consisted of 226 patients with SMAII and 162 with type III, from five countries (Belgium, Italy, Spain, the United States and the United Kingdom), change over time in the Hammersmith Modified Functional Scale (HFMSE) was … [Read more]
The UK experience of SMA gene therapy
The UK SMA REACH consortium is reporting its experience in treating infants with SMA with abeparvovec onasemnogene (OA, Zolgensma®): 93 babies with type 1 SMA received this treatment between March 2021 and December 2022 at 16 centres across the UK, only 75 cases could be accurately documented, all had type 1 SMA and were treated … [Read more]
US recommendations for treating SMA
At the initiative of Cure-SMA, the American association of patients suffering from SMN1-related proximal spinal muscular atrophy (SMA), experts have analysed all aspects of innovative treatments and have drawn up recommendations for good practice: these recommendations are aimed at healthcare professionals, patients themselves (and their families) and insurers, the authors have drawn on a wealth … [Read more]
Neonatal screening of premature babies with SMA: the German experience
German clinicians report on their experience in the management of premature newborns diagnosed during newborn screening for SMN1-related proximal spinal muscular atrophy (SMA): there are as yet no international recommendations concerning this sub-population of children (born by definition before 38 weeks’ gestation), whether symptomatic or pre-symptomatic, the files of twelve premature babies screened between 2021 … [Read more]
Brain 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]
