Myology research highlights
RSS feedAn update of European recommendations on the use of radiological contrast products in myasthenia gravis
Myasthenia gravis is included in the “precautions for use” of iodinated contrast products because of a possible worsening of the symptoms of the disease caused by their injection. After analysing the sometimes contradictory results of three retrospective studies, the Contrast Products Safety Committee of the European Society of Urogenital Radiology updated its recommendations on the … [Read more]
A review of serious digestive complications in adults with DMD
Based on four emblematic individual cases of young adults with Duchenne muscular dystrophy (DMD), a British team studied and reviewed life-threatening digestive complications: DMD patients were between 24 and 28 years old, three out of four had never received long-term corticosteroid therapy, all had minor digestive problems such as constipation and/or dysphagia, depending on the … [Read more]
More gastrointestinal and genitourinary disorders than expected in FSHD
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at least once a week for 16% of them and the need, for 25%, to adapt the way they eat to get round these problems, constipation, bladder problems, abdominal pain, etc. … [Read more]
Two new cases of congenital myasthenic syndrome linked to the DPAGT1 gene
Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disease characterized by muscle weakness and fatigability. In LG-CMS patients linked to mutations in the DPAGT1 gene, a reduction in the localization of acetylcholine receptors (AChRs) at the neuromuscular junction (NMJ) is observed, due to a glycosylation deficit resulting in a decrease in neuromuscular transmission characterized … [Read more]
MELAS: a precision endonuclease to reverse the ratio of mutated to normal mitochondrial DNA
ARCUS endonucleases developed by Precisions BioSciences (Durham, United States) are, unlike ZNF or TALENS nucleases, unique protein components, which means they can be integrated into AAV9. The mitoARCUS endonuclease has been specifically developed to eliminate the m.3243A>G mitochondrial DNA mutations responsible for more than 80% of MELAS syndromes. When tested on a cell line and … [Read more]
Tamoxifen is well tolerated but does not show significant clinical efficacy
The European phase III multicentre randomised placebo-controlled TAMDMD trial (NCT03354039) evaluated, from May 2018 to October 2020, 20 mg of tamoxifen daily for 48 weeks in 78 boys with Duchenne muscular dystrophy (DMD), aged 6.5 to 12 years, on corticosteroids. Changes in the D1 dimension of the measure of motor function (MFM) were not significantly … [Read more]
Motor difficulties more pronounced in children with DMD who have associated neurodevelopmental impairment
British and American researchers studied an international cohort of 196 children with Duchenne muscular dystrophy (DMD) in order to compare their motor performance with any associated neurodevelopmental impairment: the children were aged between 4 and 8 years and had never received long-term corticosteroid therapy, neurodevelopmental impairment (learning difficulties or language delay) was confirmed on the … [Read more]
QT segment shortening induces fatal arrhythmias in primary carnitine deficiency
A French retrospective study of 19 patients with primary carnitine deficiency, aged between 4 months and 28.9 years (median 2.3 years) at diagnosis, found : ventricular rhythm disorders in 4 of them (two ventricular fibrillations, one ventricular tachycardia and one sudden death) and cardiomyopathy in 16 cases ; six of the 11 electrocardiograms available before … [Read more]
The French version of the PedsQL® quality of life scale adapted to DMD is now validated
Until recently, there was no specific tool for assessing the quality of life of children and adolescents with Duchenne muscular dystrophy (DMD). A group of French neuropaediatricians tested the French version of the PedsQL module dedicated to DMD: 107 DMD patients and their parents were included in the validation study, four dimensions were explored (daily … [Read more]
OPMD: Established and emerging biomarkers
In order to gain a better understanding of the natural history of oculopharyngeal muscular dystrophy (OPMD) and with a view to therapeutic trials, Canadian researchers have produced a comprehensive review of the various biomarkers for this late-onset myodegenerative disease: the triplet expansion required to confirm the diagnosis and assess the phenotype must now be expressed … [Read more]
