Myology research highlights
RSS feedCaution is advised with certain herbal supplements in patients with autoimmune diseases
American doctors have examined the potential risks of over-the-counter herbal products due to their impact on the immune systems of patients with autoimmune conditions such as dermatomyositis: their conclusions are based on a literature review that identified fifteen substances proven (in humans, animals, or cell models) to have an immunostimulatory effect; these non-pharmaceutical products are … [Read more]
The use of autologous CD19 CAR-T cells in refractory autoimmune diseases
A European consortium of researchers reviews the therapeutic use of genetically modified autologous T cells (CAR-T cells): this autologous cell therapy was administered to patients with autoimmune diseases resistant to standard treatments (lupus, scleroderma, and myositis) as part of a Phase I/IIa trial called CASTLE, the product used, zorpo-cel, is a CD19-type CAR-T analog, 24 … [Read more]
The sarcoglycanopathies pattern in whole-body muscle imaging
An international research consortium has reported magnetic resonance imaging (MRI) data (whole-body MRI in this case) from 64 patients diagnosed with sarcoglycanopathy: 43 had LGMD-R3 (alpha-sarcoglycanopathy), 8 had LGMD-R4 (beta-sarcoglycanopathy), 12 had LGMD-R5 (gamma-sarcoglycanopathy) and one had LGMD-R6 (delta-sarcoglycanopathy) in each case, images of 65 target muscles were examined, most often longitudinally, fairly characteristic patterns … [Read more]
How to respond to hyperkinase: recommendations from the European Academy of Neurology
The European Academy of Neurology (EAN), the leading European professional body in neurology, has brought together experts to discuss the diagnostic approach to be adopted in cases of chronic elevation of CPK-type muscle enzymes: this condition is thought to affect 1.3% of the general population, whether individuals are asymptomatic or have few symptoms, various scenarios … [Read more]
An unusual presentation of congenital myasthenic syndrome
Clinicians in Hong Kong report an unusual case of congenital myasthenic syndrome (CMS) that initially suggested an eating disorder: the patient was 42 years old at the time of diagnosis with CMS (slow-channel type), the clinical picture included very significant progressive weight loss (down to 34 kg with a body mass index of 13.8) and … [Read more]
TK2 deficiency: from the treatment of early-onset forms to understanding the natural history of late-onset forms
In January 2026, the European Medicines Agency (EMA) issued a favourable opinion on granting marketing authorisation (MA) for Kygevvi (doxecitine and doxribtimine) for the treatment of mitochondrial myopathies with thymidine kinase 2 (TK2) deficiency. This opinion only applies to patients whose symptoms began before the age of 12, as data remains limited when the disease … [Read more]
An increased risk of urinary disorders in cases of autoimmune myasthenia
In order to study immune disorders in autoimmune myasthenia gravis, a recent study compared 86 patients with the disease and 90 hospitalized controls, matched for age and gender and assessed using the ICIQ-UI SF (urinary incontinence) and OABSS (overactive bladder) questionnaires. The prevalence of urinary incontinence was significantly higher in patients with autoimmune myasthenia gravis … [Read more]
Increasing efficacy of Elevidys in DMD
L’essai de phase III EMBARK avait présenté des résultats non significatifs contre placebo pour le critère principal à un an, ce qui avait valu un avis défavorable de l’Agence européenne du médicament (EMA) à la commercialisation de l’Elevidys dans la dystrophie musculaire de Duchenne (DMD). The phase III EMBARK trial showed non-significant results compared to placebo for the primary endpoint … [Read more]
A pregnancy documented in SMA type I
A retrospective study describes eight pregnancies in six women with severe SMA, who were all wheelchair-dependent, including one case of type I SMA. The three women who were receiving noninvasive ventilation (NIV) at home prior to their pregnancies experienced a deterioration in their respiratory function. They required increased respiratory support but were able to return … [Read more]
Neurodevelopmental disorders in children with treated SMA type I: a point of attention
Around twenty international experts on SMA gathered at a workshop organised by the European Neuromuscular Centre (ENMC) to review the neurodevelopmental disorders observed in a number of children with SMA type I who are receiving or have received innovative therapy: these disorders affect cognition, social interactions, communication and behaviour; their frequency appears to be significant … [Read more]
