Blog Archives
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]
PNDS recommendations on FHSD published internationally
The National Diagnostic and Care Protocol (PNDS) for facioscapulohumeral muscular dystrophy (FSHD) was published in France at the very end of 2021. A recent article published in the Journal of Neurology takes up the main points, focusing in particular on : the diagnosis, which is sometimes complex for clinical and/or genetic reasons, with the publication … [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]
Targeted expression of HMOX1 in satellite cells plays a protective role and reduces dystrophic lesions in mdx mice
Heme oxygenase 1 (HO-1) is an enzyme with anti-inflammatory and antioxidant potential, encoded by the HMOX1 gene. Its level is high in the muscles of mdx mice and in the myoblasts of Duchenne muscular dystrophy patients derived from iPS cells. Inhibition of Hmox1 expression in mdx mice aggravates muscle damage, increases inflammation and reduces exercise … [Read more]
CPK levels in children and adolescents vary according to age, sex, weight and whether they are taking contraception
Between 2011 and 2016, 5,238 blood samples from 2,707 healthy children and adolescents, aged 0.14 months to 18 years, were collected as part of the German LIFE-Child longitudinal study, which aims to document the development of a healthy child from birth to early adulthood. CPK levels rise sharply during the first year of life in … [Read more]
