Myology research highlights
RSS feedA West Indian cohort of patients with juvenile dermatomyositis
Specialists in rheumatology and neuromuscular pathology in the French West Indies report the clinical and biological data of 21 adolescents aged between 2.5 and 14 diagnosed with juvenile dermatomyositis (JDM) between 2000 and 2023 in hospitals in the French West Indies-Guyana region: in addition to motor deficits, these patients had dysphagia (two-thirds of cases) and … [Read more]
Histological and molecular confirmation of the tolerability of atorvastatin in dermatomyositis and antisynthetase syndrome
A Brazilian team conducted a pilot study of the effects of atorvastatin 20mg/day versus placebo for 12 weeks in 20 people with stable dermatomyositis (DM) or antisynthetase syndrome (SAS) and hyperlipidaemia. The results, published in 2021, showed good clinical muscle tolerance and an improvement in the lipid profile on atorvastatin. The same team studied muscle … [Read more]
Stamina updates and refines the epidemiology of myasthenia gravis in France
Using the French National Health Data System (SNDS), the Stamina study analysed information on patients hospitalised for myasthenia gravis or on long-term care for this condition between 2008 and 2020. The results of the study show: a prevalence of the disease in France of 34.2 per 100,000 inhabitants (i.e. 22,979 patients) and an incidence of … [Read more]
Recommendations for the diagnosis and management of Danon disease
Danon disease is a muscular glycogenosis with a preferential cardiac tropism and is due to deleterious anomalies in the LAMP2 gene encoding a lysosomal enzyme: Skeletal muscle damage is possible, as is damage to the central nervous system (intellectual deficit) and/or retinopathy, International specialists in this rare disease have drawn up a consensus best practice … [Read more]
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]
