Blog Archives
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]
FOXK2: a new gene for congenital myopathy with ptosis
Chinese researchers report for the first time mutations in the FOXK2 gene in five unrelated families: the clinical phenotype was that of an autosomal dominant congenital myopathy with early onset and the presence of very marked and often asymmetrical ptosis, five distinct pathological sequence variations were identified in the FOXK2 gene, this gene appears to … [Read more]
The Danish experience with myasthenia gravis
Danish researchers report the results of a large epidemiological study on mortality observed in myasthenia gravis between 1985 and 2020: the information was drawn from existing health data warehouses in Denmark, mortality figures were defined according to the date of occurrence of the event (within one year [short term], or between 1 and 5 years … [Read more]
