Blog Archives
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]
Hair dye implicated in myasthenic attacks
A 43-year-old woman was diagnosed with myasthenia gravis after a myasthenic crisis requiring intubation, intravenous immunoglobulins and corticosteroids. Taking pyridostigmine 60mg twice a day, she had another myasthenic attack three months later with fatigue, shortness of breath and headaches for a fortnight. Two weeks before each attack, the patient had dyed her hair red the … [Read more]
Severe gastrointestinal disorders are relatively common in adults with DMD
In a cohort of 80 adults with Duchenne muscular dystrophy (DMD) followed annually by the Radboud Centre in the Netherlands : six patients presented acute gastrointestinal disorders leading to hospitalisation, sometimes in intensive care, they were on average 29 years old at the time of their first admission for this reason, in order of frequency … [Read more]
A French study on quality of life in non-dystrophic myotonia
The responses of 47 patients with non-dystrophic myotonia to a French questionnaire on the impact of myotonia (French IMPACT survey 2022) showed that : the main symptoms reported were muscular stiffness (98%), muscular pain (83%), falls (70%) and anxiety (77%), which had a severe impact on their daily lives; a large majority of patients (96%) … [Read more]
