Myology research highlights
RSS feedReports of muscle lipidosis associated with sertraline and ranozaline
American clinicians report their experience with two drugs, sertraline and ranozaline, which have caused cases of lipidosis-type myopathy: 10 cases of muscular lipidosis were recorded in the context of exposure to one or other of these drugs, the phenotype encountered was predominantly (8/10) that of MADD (acyl-CoA dehydrogenase deficiency), in 3 cases of MADD, an … [Read more]
The importance of measuring autoantibodies directed against rituximab in myasthenia gravis
Neurologists in Nice report on their experience in the long-term treatment of autoimmune myasthenia gravis, particularly in the use of a monoclonal anti-CD20 antibody (rituximab or RTX): data from 101 patients with myasthenia gravis treated with RTX as a first- or second-line therapy were included in a retrospective study. Among them, 34 developed autoantibodies directed … [Read more]
First descriptions of cases of congenital myopathy linked to the dystonin gene
An international consortium of researchers including experts from the Institute of Myology reports the identification of a new form of early-onset congenital myopathy linked to the DST gene encoding dystonin: 19 patients from 14 unrelated families were identified following high-throughput sequencing studies in a context of diagnostic uncertainty. The clinical phenotype was quite severe from … [Read more]
NKG-001, a new generation gene therapy being tested in SMA
NKG-001, a novel gene therapy product featuring a next-generation AAV vector (cceAAV for covalently closed-end double-stranded AAV), was tested intravenously in two children with proximal spinal muscular atrophy (SMA) aged one year (with two copies of SMN2) and two years (with three copies of SMN2) who were already being treated with nusinersen or risdiplam. NKG-001 … [Read more]
A new international registry for patients with myasthenia gravis
MGBase is a registry created in 2021 to compile online data on myasthenic patients worldwide: it is directly inspired by a registry developed for multiple sclerosis (MSBase), which collected data from 107,000 patients. In three years, MGBase has recorded the clinical and immunological data of 565 patients with myasthenia gravis included by 16 centres operating … [Read more]
Few trinucleotide expansions are responsible for CMT disease in the UK
English and Italian researchers have used high-throughput sequencing to examine unresolved cases of Charcot-Marie-Tooth disease (CMT): CGG expansions in the NOTCH2NLC and LRP12 genes have previously been reported in the literature in several CMT patients from Asia, 560 cases of CMT diagnosed in the United Kingdom and not elucidated at the molecular level were studied … [Read more]
Towards a broader phenotypic spectrum in type 0B muscular glycogen storage disease
An international consortium of researchers reviews an ultra-rare form of muscular glycogen storage disease linked to the GYS1 gene encoding glycogen synthase: clinical and biological data from eight new patients with this myopathy were collected and added to those from the update of two previously published cases from the same family, pathogenic variants were distributed … [Read more]
A cardiac micro-pump useful in cases of decompensated cardiomyopathy in DMD
American researchers report the successful implantation of a temporary Impella 5.5 endocavitary micro–pump developedby Abiomed: the patient was a 14–year–old boy with Duchenne muscular dystrophy, he had been transferred for treatment of cardiogenic shock in the context of decompensation of his cardiomyopathy. the implantable device was inserted through the right axillary artery into the left … [Read more]
Specific autoantibodies can predict response to treatment in dermatomyositis
French researchers have identified specific autoantibodies associated with myositis that may predict the response to treatment of dermatomyositis with Janus kinase (JAK) inhibitors (JAKi): 39 children and adolescents with juvenile dermatomyositis were included in the study, all of whom were followed at the Necker-Enfants Malades Reference Center in Paris. A positive, complete, or partial response … [Read more]
Three new cases of the p.Ser85Cys mutation in the MATR3 gene in a form of distal myopathy
French myologists report the case of three adults (two of whom are related) of Portuguese origin, who were treated in France for a slowly progressive muscle deficiency: histological and genetic studies confirmed the diagnosis of distal myopathy linked to a known variant of the MATR3 gene encoding matrin-3. this pathogenic variant has already been reported … [Read more]
