Myology research highlights
RSS feedTargeted 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]
Italian study confirms phenotypic heterogeneity of hereditary P0 neuropathy
Italian clinicians participating in the national registry of Charcot-Marie-Tooth (CMT) disease have compiled the clinical and biological data of patients in whom a pathological variant of the MPZ gene (encoding the P0 protein) has been identified: the registry sample represented a total of 186 patients, they all belonged to one of the five clusters of … [Read more]
First-line rituximab as effective alone as in combination with corticosteroids in myasthenia gravis
The Nice University Hospital conducted a single–centre retrospective study based on data from 68 patients treated in thefirst line with rituximab for a generalised form of myasthenia gravis. It was severe in more than half the cases (MGFA score greater than or equal to 3) and with anti-MuSK autoantibodies in 4.76% of cases. In this cohort … [Read more]
Dominant CACNA1S mutations: pure myopathic forms are possible
Dominant mutations of the CACNA1S gene most often cause hypokalemic periodic paralysis or malignant hyperthermia. The team at the Brussels Neuromuscular Reference Centre reports the case of a 65-year-old man with progressive proximal muscle weakness that began at the age of 35, without any transient paralysis: his mother, who had been in a wheelchair since … [Read more]
An update on distal hereditary motor neuropathies
This article reviews the various aspects (clinical, genetic, pathophysiological and therapeutic) of this group of heterogeneous inherited diseases characterized by slowly progressive pure distal motor neuropathy and normal motor and sensory conduction velocities. Over thirty genes are associated with these purely motor pathologies, which Harding classified into seven major clinical groups: four with autosomal dominant … [Read more]
A benefit-risk balance against anticholinesterase drugs in anti-MusK myasthenia gravis
Autoimmune myasthenia with anti-MuSK autoantibodies (about 8% of patients) has a unique phenotype, as does its response to treatment, particularly anticholinesterase drugs. The results of a retrospective study carried out in Italy on 202 patients followed up at an expert center demonstrate this: 81.6% of them were already on anticholinesterase medication prior to admission, of … [Read more]
Positive opinion from the HAS on the national expansion of newborn screening for SMA
AFM-Téléthon is delighted with the positive opinion issued by the French National Authority for Health (HAS) concerning the extension of neonatal screening for spinal muscular atrophy (SMA) to the entire French territory. This significant step forward is based in particular on the results of the Depisma pilot programme, launched in early 2023 by AFM-Téléthon in … [Read more]
