Blog Archives
An algorithm to assist diagnostic for seronegative autoimmune myasthenia gravis
At the 275th workshop of the European Neuromuscular Centre (ENMC), held in February 2024 in the Netherlands, experts and patient representatives met to review the diagnosis and management of seronegative autoimmune myasthenia gravis in the light of the latest advances. They concluded that : seronegative autoimmune myasthenia (undetectable autoantibodies) affects 10 to 15% of patients … [Read more]
From diagnosis to treatment, antisynthetase syndrome is attracting international attention
In France, the National Data Bank for Rare Diseases lists 1,156 patients followed up in Centres of Reference or Competence for an anti-synthetase syndrome (SAS), an entity associated with overlapping myositis, which until now has lacked a consensual definition. The members of the international project Classification Criteria for Anti-synthetase Syndrome (Class) : have identified clinical … [Read more]
Post-hoc news on efgartigimod in anti-RACh myasthenia gravis
The phase III placebo-controlled Adapt trial and its open-label extension Adapt+ evaluated the efficacy of efgartigimod, an anti-FcRN, in generalised autoimmune myasthenia gravis. They ended in 2020 and 2022 respectively. Their results were the subject of a post hoc analysis, which showed that, in participants with anti-RACh : a significantly higher percentage of patients treated … [Read more]
Tribute to Michel Fardeau, pioneer of myology
Michel Fardeau passed away on 6 December at the age of 95. A medical researcher, he began his career as a Clinic Director at Paris Hospitals before working at the end of the 1960s at the National Institutes for Health (NIH) in Bethesda, in the United States, with his American counterpart King W Engel, with … [Read more]
Methylation studies to help with the molecular diagnosis of FSHD
The Italian consortium dedicated to facioscapulohumeral muscular dystrophy (FSHD) reports on its experience in integrating methylation studies into the routine diagnosis of this myopathy with an excessively complex pathophysiology: 218 patients with or suspected of having FSHD were included in the study, in addition to measuring the number of D4Z4 repeats and 4qA/B haplotyping, methylation … [Read more]
The case of premature twins with SMA who received early treatment
American clinicians report their experience of gene therapy treatment of two twins with proximal spinal muscular atrophy (SMA) who were born prematurely. The twins were born at 30 weeks and 2 days gestation due to a decelerated heart rate in one of the girls; they weighed 1560 and 1590 grams. Genetic analysis revealed no copy … [Read more]
DMD: French recommandations on corticoids
On the basis of a review of the literature, the Filnemus neuromuscular rare diseases health network and the French Paediatric Neurology Society (SFNP), including clinicians from I-Motion, have published recommendations to harmonise practices for prescribing corticosteroid therapy and monitoring associated adverse effects in children with Duchenne muscular dystrophy. With regard to the long-term use of … [Read more]
ERN EURO-NMD webinar, 12 Dec.: Prof. Dr. Norma Romero (France)
The role of muscle biopsy in Congenital Myopathies Thursday 12 December 2024 – 16:00 – 17:00 Paris time Prof. Dr. Norma Romero (Institute of Myology, Paris, France) > + infos Organized by EURO-NMD in collaboration with ERN-RND.
Stamina analyses the treatment of myasthenia in ‘real life’ in France
Based on data from the French National Health Data System (SNDS), the Stamina study reviewed the management of two groups of adults with autoimmune myasthenia gravis: the ‘prevalent’ population, of 22,079 patients diagnosed before 31 December 2019, the ‘incident’ population, comprising 2,661 patients diagnosed in 2012 or 2013. A study of their follow-up shows that … [Read more]
Advances 2024 in limb-girdle muscular dystrophies
This document presents limb-girdle muscular dystrophy research news from the past year (ongoing observational studies and clinical trials, scientific and medical publications, etc.). As the name suggests, limb girdle muscular dystrophies (LGMD) affect the “limb girdle” muscles. Symptoms generally appear before the age of 30, with slow progression and no facial muscle involvement. Common symptoms … [Read more]
