Myology research highlights
RSS feedOnly part of the D4Z4 region is necessary for epigenetic repression of DUX4
Facioscapulohumeral muscular dystrophy (FSHD) is caused by the abnormal and delayed expression of a transcription factor called DUX4, which has a deleterious effect on adult muscle fibers. American and Dutch researchers have precisely characterized the D4Z4 region where the DUX4 gene is located: several fragments of the region of interest (D4Z4) were then studied in … [Read more]
Towards a better understanding and management of SORD-related neuropathy
Biallelic mutations in the SORD (sorbitol dehydrogenase) gene cause neuropathy that can present as a purely motor form (distal hereditary motor neuropathy, dHMN) or as axonal Charcot-Marie-Tooth disease with muscle and sensory involvement (CMT 2). An international publication analysed data from 144 patients with SORD-related neuropathy (two-thirds with CMT 2 and one-third with dHMN). It … [Read more]
Large deletions of the NEB gene in distal myopathy
An international consortium of researchers, including two French scientists, studied possible correlations between genotype and phenotype in the context of myopathies linked to the NEB gene encoding nebulin: the triplicated part of the gene (exons 82 to 105) was studied in particular, 35 families were genotyped using different methods (NGS â whole exomes and genomes, … [Read more]
Challenges remain in the design of registries for limb-girdle muscular dystrophies
A study conducted in part by researchers at Henri Mondor Hospital in Paris reports several persistent difficulties in the design and use of registries for patients with limb-girdle muscular dystrophy (LGMD). In particular, they highlight: variability in the design of the ten registries published in the scientific literature, which makes data interoperability difficult; the limited … [Read more]
A broad genotype range for the TNNC2 gene
French researchers report a case of neonatal hypotonia that was found to be related to a pathological sequence variant in the TNNC2 gene encoding type C troponin: this gene was already known to cause early-onset myopathy; in a pair of siblings, the first died in the neonatal period and the second was the subject of … [Read more]
Improvement in cardiac and motor function with gene therapy in infantile-onset Pompe disease
Four infants with Pompe disease received an intravenous injection of GC301, a gene therapy that delivers a codon-optimized gene encoding human acid alpha-glucosidase (GAA) carried by an adeno-associated viral vector serotype 9 (AAV9). After 52 weeks of observation, cardiac measurements, such as left ventricular ejection fraction, improved in three of the infants. Their Hammersmith Infant … [Read more]
UK recommendations to improve orthopedic care in DMD
A group of British experts has formulated recommendations, approved by the British Society for Children’s Orthopaedic Surgery, aimed at harmonizing and improving orthopedic care for children and young adults with Duchenne muscular dystrophy (DMD). Non-urgent care should be provided in specialized centers, but fractures can be treated by local trauma units if sufficient medical and … [Read more]
A pharmacovigilance study on the use of efgartigimod in myasthenia gravis in the United States
Efgartigimod is one of the new molecules used in refractory forms of myasthenia gravis. Chinese researchers have reviewed the side effects recorded in the Food and Drug Administration (FDA) pharmacovigilance database, which is freely accessible in the United States: the study covered the period from the first quarter of 2022 to the fourth quarter of … [Read more]
Encouraging results from the ventilatory weaning protocol during myasthenic crises
French clinicians involved in weaning myasthenic patients undergoing decompensation (myasthenic crisis) report the results of the WEAN Safe protocol applied to a single-center cohort (Paris, SalpĂȘtriĂšre): of the 698 admissions to intensive care for this reason, only the records of 81 patients covering the period 2008-2023 were selected for the study, the median age of … [Read more]
Myotonic dystrophy and increased cancer risk: the American experience
American epidemiologists and statisticians sought to better understand the risk of developing cancer in a population with myotonic dystrophy (MD), primarily Steinert’s disease (type 1 MD or MD1). Medical data from 1,229 individuals in the North American MD STARnet registry were analyzed. During the 12-year observation period, cancer was diagnosed in 52 individuals. People with … [Read more]
