Blog Archives
Two new biomarkers useful for diagnosing inclusion myositis and autoimmune necrotizing myopathy
Three Belgian researchers tested the diagnostic value of two serum markers in muscle pathology: the chemokine CXCL10 and the cytokine GDF5. These biomarkers were measured in 21 patients with autoimmune necrotising myopathy (ANIM), 18 with sporadic inclusion myositis (SIM), three with overlapping myositis, two with dermatomyositis and one with an anti-synthetase syndrome, all were compared … [Read more]
guide to systematic screening for cancers associated with myositis
At the initiative of the international consortium IMACS (International Myositis Assessment and Clinical Studies Group), experts in adult idiopathic inflammatory myopathies have drawn up recommendations designed to improve cancer screening in this type of disease: online surveys combined with a Delphi-type methodology served as the basis for the experts’ deliberations, cancer risk stratification and screening … [Read more]
Vamorolone (Agamree®) now authorised in Europe for DMD from the age of 4
Vamorolone (drinkable suspension, 40 mg/ml) is a “dissociative” synthetic steroid developed by Santhera and ReveraGen for Duchenne muscular dystrophy (DMD), as an anti-inflammatory treatment alternative to conventional corticosteroids. The European Union has just approved the marketing authorisation for vamorolone in DMD patients from the age of 4, based on the results of four trials in … [Read more]
Pompe’s disease: beneficial effect of long-term physical activity, especially if training is personalised
The physical fitness of 19 people with moderate Pompe’s disease who took part in a 12-week personalised training programme in the Netherlands in 2011 was compared with that of 10 similar people, in terms of age and duration of illness. Sixteen were considered active according to WHO criteria: 9 participants continued the 2011 exercise programme, … [Read more]
The largest cohort of disorders associated with fetal anti-acetylcholine receptor antibodies
A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. The 30 mothers had anti-fRACh and anti-RACh antibodies, and half of them had not been diagnosed with myasthenia prior to pregnancy. There were seven terminations of pregnancy for severe congenital multiple arthrogryposis, … [Read more]
McArdle’s disease: what impact on patients’ social participation?
The EUROMAC registry brings together information from 269 people with McArdle’s disease from eight European countries, including France, as well as the United States. A study based on the responses of 73% of these patients sheds new light on their disease in real life: 67% of respondents said they were working, 29% had had to … [Read more]
Compliance with non-invasive ventilation is not related to respiratory parameters in DM1
Dutch researchers studied compliance with non-invasive mechanical ventilation (NIV) prescribed as part of respiratory management for patients with Steinert’s disease (DM1). 101 patients who had been prescribed this equipment were monitored for at least one year, at the end of the year, 58 of them showed little or no compliance, these results being in line … [Read more]
Low-carb ketogenic diet and McArdle’s disease: results of an international survey
An international survey was conducted among 183 people with McArdle’s disease in 18 countries, including France, to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that : a third of participants have tried this diet, of these, almost 90% reported positive effects on McArdle’s disease symptoms (exertional intolerance, muscle pain and … [Read more]
Duchenne muscular dystrophy: the possibility of necroptosis inhibition
In the dystrophin-deficient muscle of mouse, rat and dog models of Duchenne muscular dystrophy, there is activation of necroptosis, RIPK1 and RIPK3, key signaling molecules of programmed necrosis, as well as MLKL, a downstream effector of RIPK1 and 3. However, two studies have shown that inhibition of necroptosis can lead to impaired myogenesis and muscle … [Read more]
A CRISPR-Cas9 system induces multiple exon skipping in DMD
Genome editing is an emerging approach to the targeted treatment of Duchenne muscular dystrophy (DMD). Japanese researchers have conducted experiments using the CRISPR-Cas9 tool in induced pluripotent stem cells (iPSc): unlike other genome-editing tools that target one exon of the DMD gene, the system used can skip many exons at once, up to a total … [Read more]
