Blog Archives
Clinical and biological markers to differentiate between ocular and generalised forms of myasthenia gravis
Danish clinicians reviewed 350 records of patients with ocular or generalised forms of autoimmune myasthenia : clinical, electrophysiological and serological data were compiled and compared, 15.7% of patients had ocular myasthenia, the onset was later than in generalised forms, with lower levels of autoantibodies against the acetylcholine receptor (ARch), diagnostic odyssey was also longer, and … [Read more]
Towards a better assessment of complex cases of titinopathy
The large size of the TTN gene encoding titin and the existence of numerous isoforms make it difficult to interpret genomic variants. An international consortium provides an update on this issue: 12 cases of suspected titinopathy, one of which had already been published, have been the subject of further studies with the aim of determining … [Read more]
Belgian family confirms possible link between HLA-DRB1*11:01 and statin-induced myositis
In Belgium, a father and daughter : developed autoimmune necrotising myopathy with HMGCR autoantibodies a few years apart, following treatment with statins; are both carriers of HLA-DRB1*11:01, a variant already identified as being more frequent in this disease. The case of this Belgian family strengthens the hypothesis of genetic susceptibility to autoimmune myositis. Investigation of … [Read more]
Beware of phytotherapies in dermatomyositis
American clinicians have studied the prevalence and risk-taking among patients suffering from cutaneous autoimmune diseases who use herbal treatments: These included dermatomyositis and systemic lupus erythematosus (SLE), 673 adult patients consulting the University of Pennsylvania between 2007 and 2024 were included in a retrospective study, a third of the patients, particularly younger patients and Hispanics, … [Read more]
Positive feedback on multidisciplinary management of interstitial lung disease in France
Patients with certain inflammatory myopathies are at risk of developing severe interstitial lung disease. French clinicians working in the FAI2R and RespiFil healthcare networks report on their experience after setting up a multidisciplinary unit to help practitioners in the field confronted with this problem: this unit is made up of lung specialists, internists, rheumatologists, radiologists, … [Read more]
Ventilatory weaning and myasthenic crisis: the experience of Raymond Poincaré University Hospital
Clinicians in the western Ile-de-France region have retrospectively analyzed the clinical and paraclinical data of 126 myasthenia gravis patients who presented with a first myasthenic episode during the course of their disease, over the period 2001-2018: 18 of the 126 patients (i.e. 14%) could not be weaned off their ventilator after a first extubation attempt, … [Read more]
Study of a Russian cohort adds to the phenotypic description of MATR3-linked distal myopathy
Matrin-3 deficiency can give rise to a form of amyotrophic lateral sclerosis (ALS) or distal myopathy with vocal cord paralysis (VCPDM). Russian clinicians report the clinical and biological data of six new patients from four unrelated families, even though these conditions remain exceedingly rare: two of these patients showed signs that initially led to the … [Read more]
Common in South India, GNE myopathy is associated with a founder effect
Clinicians in southern India, working with other international research teams, have compiled clinical, biological and genetic data from a very large cohort of adult patients previously diagnosed with GNE myopathy: 157 cases were included in this retrospective study, onset of symptoms averaged 26 years, with a delay in diagnosis of around six years, bilateral foot … [Read more]
Granulomatous myositis: a rare form of inflammatory myopathy
French researchers report the clinical and histological data and immunological profile of 26 patients diagnosed with granulomatous myositis: the age of onset was generally very late (median age 65), with clinical severity observed in half the cases, in 14 out of 26 cases, the etiology was sarcoidosis, and more rarely other causes (inclusion myositis, paraneoplastic … [Read more]
‘Fête de la science 2024’ at the Institute
This year, the Fête de la Science was held nationwide from 4 to 12 October 2024. The Institute of Myology opened its doors to the general public on this occasion, with a tour of our laboratories on the afternoons of 8 and 10 October, bringing together AFM donors, partners and the general public, with around … [Read more]
