Myology research highlights
RSS feedA mutation in HSPB8 leads to axial and proximal myofibrillar myopathy beginning in childhood
While mutations in HSPB8 have been associated with distal hereditary motor neuropathy (dHMN2A) or Charcot-Marie-Tooth disease type 2L, five variants (including four affecting the last exon) of this gene have been linked to a distal form of myopathy beginning in adulthood. A Chinese team reports a first case of an 18-year-old girl with : a … [Read more]
The p.D207V mutation is correlated with a less severe form of GNE myopathy
A retrospective Chinese study of 83 patients with GNE myopathy compared the evolution of 40 carriers of the p.D207V mutation in the gene in question with that of 43 carriers of another mutation: the age of onset of the disease was 27 years for the former versus 24 years for the latter; carriers of the … [Read more]
A new gene, HMGCS1, causes stiff spine syndrome
An international consortium has reported the discovery of a new gene responsible for rigid spine syndrome (RSS): several families with an RSS phenotype but no mutation in the SELENON gene have been studied, either in whole exome or whole genome, bi-allelic variants of the HMGCS1 gene were identified in five patients from four unrelated families, … [Read more]
Registry data to evaluate respiratory function in FSHD
American researchers have used data from the national MD STARnet registry to study the prevalence and typology of respiratory disorders in patients with facioscapulohumeral muscular dystrophy (FSHD) : all ventilatory parameters of patients in the registry were compiled and analysed over a period from 2008 to 2016, only 20% of the 170 patients identified in … [Read more]
A study of the paraspinalis and thigh muscles before and after spinal surgery
French researchers have studied the imaging of spinal and thigh muscles in patients with SMA before and after corrective spinal surgery: 20 patients with type II SMA participated in the study, two magnetic resonance imaging (MRI) scans of the areas of interest (thighs and spine) were performed before and after corrective spine surgery, five years … [Read more]
Risdiplam in SMA: feedback from adults in France
Practitioners at the Neuromuscular Reference Centre at the Henri-Mondor University Hospital (Créteil) report their real-life experience of treating six adults with SMA: four with type II SMA and two with type III SMA participated in this observational study, two had initially received intrathecal nusinersen and were then switched to risdiplam, the observation period varied between … [Read more]
French experience with Zolgensma® in type I SMA
Between June 2019 and June 2022, 95 children with treatment-naive type I SMA were identified in one of the 23 neuromuscular disease centres of reference. A study of ‘real-life’ data was carried out by a committee of French experts on 29 of these children, who were treated exclusively with Zolgensma®, with follow-up of at least … [Read more]
Use of psychostimulants to treat daytime hypersomnolence in myotonic dystrophies
A Cochrane review of clinical trials evaluating psychostimulant drugs in myotonic dystrophies was published in November 2024. Six clinical trials were selected, involving 136 participants. According to patient feedback, these drugs may reduce daytime sleepiness, but do not improve quality of life. There were discrepancies between the various trials, making the conclusions uncertain. In addition, … [Read more]
A natural history of FSHD established after five years of observation
Dutch researchers have designed a follow-up protocol for patients suffering from facioscapulohumeral muscular dystrophy (FSHD) in order to gain a better understanding of the natural history of this disease: 154 symptomatic patients confirmed by molecular biology were included in the study, the median age of the cohort was 51 years, a battery of tests and … [Read more]
DMD: a summary of the factors correlated with cardiac damage
A review of the literature on predictors of cardiac involvement in Duchenne muscular dystrophy included 33 articles concerning 9,232 patients. Most (76%) were retrospective studies, 15% randomised studies, 6% prospective cohort studies and 3% case series. Cardiac treatments were significantly associated with preserved systolic ejection fraction, with a moderate to high level of evidence. Mutations … [Read more]
