Blog Archives
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]
Dermatomyositis and cancer are significantly associated
A French multicentre retrospective study of 73 patients with cancer-associated dermatomyositis, followed for an average of 3.92 years, involving experts from the Institute of Myology, showed that : 82.2% had classic dermatomyositis, 8.2% had amyopathic dermatomyositis and 9.6% had hypomyopathic dermatomyositis; 76.7% had been diagnosed with cancer in the year preceding or following the onset … [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]
ERN EURO-NMD, 9 Jan.: Dr. Teresinha Evangelista (France)
The role of biopsy in Autophagic Myopathies Thursday 09 January 2025 – 16:00 – 17:00 Paris time Dr. Teresinha Evangelista (Institute of Myology & Pitié Salpêtrière Hospital – AP-HP, Paris, France) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
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]
NDUFA11, a possible autoantigen in inclusion body myositis
An international study involving the Nice University Hospital and the Pitié-Salpêtrière Hospital : evaluated IgG reactivity to a panel of 357 proteins in a total of 874 people, including 31 with sporadic inclusion myositis; IgG anti-NDUFA11 (for NADH dehydrogenase 1 α subcomplex 11) was found to be more frequent in inclusion myositis (9.7% of cases) … [Read more]
New European recommendations for Pompe disease
The European Reference Network for Metabolic Diseases (MetabERN) has drawn up new recommendations for Pompe disease, the most common muscular glycogenosis: experts in the field and members of MetabERN have analysed the recent literature on the subject, focusing on the results of various therapeutic trials, a rigorous methodology was used to create a standardised database … [Read more]
