Myology research highlights
RSS feedA paediatric form of myopathy with VCP deficiency
An international consortium of researchers has reported, for the first time ever, several paediatric cases of myopathy with a deficiency of VCP, a vasoline-containing protein previously implicated in an autosomal dominant form of inclusion myopathy associated or not with Paget’s disease, motor neurone damage and frontotemporal dementia: 13 unrelated children were identified using the GeneMatcher … [Read more]
Thrombotic microangiopathy observed in the course of SRP autoimmune necrotising myopathy
A Japanese team of neurologists and nephrologists report the observation of a 61-year-old patient diagnosed with autoimmune necrotising myopathy: the clinical history and the positivity of anti-SRP autoantibodies were consistent with this diagnosis, treatment consisted of corticosteroids and immunoglobulins, followed by tacrolimus, eight weeks after initiation of this treatment, thrombotic microangiopathy was observed and confirmed … [Read more]
The use of hand orthoses in boys with DMD
A Swedish qualitative study assessed the impact of wearing hand orthoses at rest on the quality of life of eight boys with Duchenne muscular dystrophy aged between 8 and 21 years (median age 17.7 years) and five of their parents, immediately after the intervention, and then, for five of them and three of their parents, … [Read more]
A 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]
