Myology research highlights
RSS feedCongenital myopathy linked to the STAC3 gene is a frequent cause of early hypotonia in South Africa
South African researchers report the clinical and biological data from a cohort of 127 young children with congenital hypotonia: they had been previously excluded for SMA and Prader-Willi syndrome, the homozygous variant identified in STAC3 by high-throughput DNA sequencing in 31 children is the same as that found in patients from Africa, additional haplotyping studies … [Read more]
A higher incidence of AINM in the New Zealand population of Polynesian origin
Clinicians report a large and growing number of cases of autoimmune necrotising myopathy (AINM) in New Zealand: 40 new cases of HMGCR autoantibody-positive AINM were diagnosed over a two-year period (2019-2021), all were in people aged over 40 who had been exposed to cholesterol-lowering statins, the calculated incidence was found to be five times higher … [Read more]
Differential circulating microRNA profiles in several subtypes of inflammatory myopathies
Italian researchers have studied extra-cellular vesicles (EVs) present in the bloodstream and containing several types of very small messenger RNA: in particular, microRNAs (miRNAs) and RNAs that interact with the piwi protein (piRNAs) were measured, the plasma of 47 patients with different types of myositis was analysed and compared with the plasma of 45 healthy … [Read more]
What is the relevant level of motor function change in DMD?
Given the relative failure of a certain number of therapeutic trials, an international consortium of specialists in Duchenne muscular dystrophy (DMD), in collaboration with the AFM-Téléthon in particular, has examined the motor trajectories in this pathology: to this end, they gathered data and clinical assessments from more than 1,000 DMD patients, in the context of … [Read more]
Prenatal exposure to the AAV9 adeno-associated virus carries some risk
American researchers wanted to find out whether exposing a foetus to AAV9 during pregnancy could be envisaged: in vivo experiments were carried out on lamb foetuses, the product used was a GFP gene contained in a type 9 AAV, administered either intracranially or via the umbilical vein, at 75 days gestation, tissue expression of the … [Read more]
Congenital hallux valgus also occurs in BMPR1B-related dysplasias
The mother of a three-month-old girl with bilateral congenital hallux valgus, informed via the internet and social networks of the possibility that her daughter had fibrodysplasia ossificans progressiva (FOP), consulted a bone disease reference centre. Pending the sequencing of the girl’s entire genome, precautions linked to the risk of FOP, such as suspending the vaccination … [Read more]
Gene therapy and SMA: an update of European recommendations
A consortium of European experts has reviewed, four years apart, the use of AAV-based gene therapy in SMA: real-life data and feedback from neonatal diagnosis of SMA in many countries were taken into account in this update, 19 specialists from 17 European countries, including France, took part in the working group twelve proposals were discussed … [Read more]
Is taxomifene useful for preserving cardiac function in DMD?
The investigators of the TAMDMD trial, designed to study the possible beneficial effects of tamoxifen in Duchenne muscular dystrophy (DMD), have carried out a post-hoc analysis despite disappointing results concerning motor function: the trial involved 79 double-blind patients treated with oral tamoxifen, analysis of the echocardiographic data available for 14 of these patients (7 treated … [Read more]
Urinary problems, to be investigated regularly in NMDs
Two recent publications highlight the high frequency of lower urinary tract symptoms in various neuromuscular diseases and their major impact on daily life. The first reports the results of a Turkish study of 45 boys aged between 5 and 18 suffering from Duchenne muscular dystrophy: urinary problems were present in 86.6% of them (strategies for … [Read more]
Towards a deeper understanding of the characteristics of the oculomotor muscles
Differences in embryological origin, regenerative potential and susceptibility to muscular diseases exist between the skeletal muscles of the head and those of the trunk and limbs. In particular, the oculomotor muscles are not affected (or are only slightly affected) in Duchenne muscular dystrophy. They are also distinctive for the key role played by the Pitx2 … [Read more]
