Myology research highlights
RSS feed3,4-diaminopyridine may improve VAMP1-related congenital myasthenic syndromes
In 2017, mutations in VAMP1 were implicated in a congenital presynaptic myasthenic syndrome. Since then, nine autosomal recessive cases with hypotonia, facial weakness, fatigability, bulbar involvement and delayed motor acquisition have been described. Five new cases were reported in May 2024. Their description confirms the severity of the bulbar and motor impairment; all had scoliosis … [Read more]
Properties of the functional scale used in inclusion myositis
An Anglo-Saxon consortium studied the psychometric properties of the IBMFRS (Inclusion Body Myositis Functional Rating Scale), the reference scale used in patients with inclusion myositis (IBM): to this end, the investigators retrospectively analysed the IBMFRS data accumulated during a multicentre clinical trial involving 150 patients with IBM, over a total period of 20 months, all … [Read more]
GNE myopathy: the absence of sialic acid in adulthood is not pathological in mice
Israeli researchers have developed a mouse model of GNE myopathy, in which they induce GNE deficiency in the muscle and liver in adulthood. These mice show no signs of functional or structural muscle damage. Despite a severe reduction in the amount of sialic acid in the liver and muscle, they showed no abnormal behaviour or … [Read more]
European recommendations for late-onset Pompe disease summarised by the three-S rule
The European consortium for Pompe disease has updated its recommendations on enzyme replacement therapy (ERT) for this metabolic myopathy. The considerable hindsight now available on this treatment, its potential benefits and its real-life results were taken into account, as was the arrival of alternative (and/or new-generation) therapies. Three topics in particular were addressed by the … [Read more]
Inherited motor neurone diseases are not limited to amyotrophic lateral sclerosis
The team at the Centre de référence pour la sclérose latérale amyotrophique et pour les maladies neuromusculaires rares ‘AOC’ (Reference Centre for Amyotrophic Lateral Sclerosis and Rare Neuromuscular Diseases) is reporting on the diversity of the main hereditary motor neurone diseases throughout their history. Many were described as early as the end of the 19th … [Read more]
Primary administration of biphosphonates is less deleterious than expected, but remains to be monitored, particularly in DMD
British clinicians have studied the side effects of the first venous administration of biphosphonates to combat osteoporosis: the records of 107 children who had received biphosphonates for inflammatory or genetic diseases (including Duchenne muscular dystrophy or DMD) were analysed retrospectively, the frequency of immediate complications and the length of hospitalisation were taken into account, in … [Read more]
Establishing functional trajectories is relevant to the design of therapeutic trials in DMD
Faced with the difficulties and sometimes disappointed expectations of certain therapeutic trials in Duchenne muscular dystrophy (DMD), an international consortium of researchers sought to refine the individual trajectories of the patients concerned: the study involved 51 DMD patients (aged between 7 and 18 years) and focused on the period from the loss of walking ability, … [Read more]
Glucocorticoid receptors are locally useful in DMD
American researchers sought to better understand the function and effects of long-term corticosteroid therapy in Duchenne muscular dystrophy (DMD): the gene encoding the glucocorticoid receptor was invalidated in one of the animal models of DMD (the mdx52 mouse), the double knock-out mice thus created were studied from a physiological (strength and function measurements) and histological … [Read more]
n myasthenia gravis, thymectomy for thymoma gives good neurological results after the age of 65
A retrospective study carried out in two Italian expert centres in 66 patients aged over 65 with autoimmune myasthenia with thymoma, without anti-MuSK, showed : significant neurological improvement after thymectomy in 88% of patients, corresponding to a post-intervention MGFA status of stable complete remission (6% of cases), pharmacological remission (16.7%) or minimal manifestations (65.2%), no … [Read more]
A new combination of biomarkers to detect DMD female carriers
Chinese researchers have studied ways of improving screening for women with Duchenne muscular dystrophy (DMD): apart from DMD gene genotyping, creatine phosphokinase (CPK) blood testing has until now been the only simple and cheap biomarker, because of the large number of false negatives with this method, the value of other biomarkers has been explored, in … [Read more]
