Myology research highlights
RSS feedLargest cohort of primary carnitine deficiency in the Faroe Islands treated with L-carnitine
A 10-year follow-up of the world’s largest cohort of 139 patients with primary carnitine deficiency, located in the Faroe Islands, where the incidence is particularly high, and treated with L-carnitine supplementation, revealed that : the vast majority of patients are alive and well (others died naturally, unrelated to the disease), a third continue to experience … [Read more]
Nusinersen in Neuromuscular Disease Reference Centers
Clinicians from the French network of neuromuscular disease specialists followed a cohort of 37 children treated with nusinersen (Spinraza) between the ages of 2 months and 3 years for three years. The motor functions of these patients, now aged between 3 and 6, improved. Motor development was greater in children with three copies of the … [Read more]
Fatty acid beta-oxidation disorders: a French retrospective study is optimistic despite the lack of treatment
Analysis of retrospective data from 44 adults with fatty acid beta-oxidation deficiency followed up in six French centres of reference for rare neuromuscular or metabolic diseases showed that : fourteen had carnitine palmitoyl transferase 2 (CPT2) deficiency, nine had multiple acyl-CoA (MAD) deficiency, 13 had long-chain fatty acid dehydrogenase (VLCAD) deficiency, 3 had long-chain 3-hydoxyacyl-CoA … [Read more]
An 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]
