Myology research highlights
RSS feedItalian 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-TĂ©lĂ©thon 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-TĂ©lĂ©thon in … [Read more]
Targeting the ACVR1 gene or interleukin-1 in fibrodysplasia ossificans progressiva
Two of the therapeutic avenues explored in fibrodysplasia ossificans progressiva (FOP) have been the subject of recent publications: a report of four cases of administration of interleukin-1 inhibitors (anakinra and canakinumab) for up to six years in patients aged between 23 months and 15 years, with a significant reduction in disease flare-ups from 1.51 to … [Read more]
NanoCur: a curcumin derivative being studied in CMT 1A
Curcumin is known to have antioxidant and neuroprotective effects, but it degrades too quickly in the body to make a good drug candidate. NanoCur is a compound developed from curcumin, with improved pharmacokinetic characteristics. It was developed by researchers at the University of Limoges, with the support of the AFM-TĂ©lĂ©thon, to target nerve damage in … [Read more]
Classical form of Steinert’s disease: 3 possible different cognitive profiles
Cognitive impairment may occur in the adult-onset form of Steinert disease. This can vary greatly from one person to another. A study from Lille characterised cognitive impairment in 124 adult patients aged between 19 and 73: Their work revealed three types of cognitive profile, which seemed to be influenced by age and the time elapsed … [Read more]
Efficacy of long-term quasi-total parenteral nutrition in a young man with Emery-Dreifuss muscular dystrophy
The weight of a 26-year-old man with Emery-Dreifuss muscular dystrophy fell in one year from over 23.8 kg to 22.5 kg, in connection with a worsening of his dysphagia to solid foods over the last six months. He was consuming 500 to 600 kcal/day and 150 to 200ml of water. He was put on total … [Read more]
