Myology research highlights
RSS feedDominant 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]
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]
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-Téléthon, 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]
CHMP opinion still negative on the renewal of Translarna’s marketing authorisation in DMD
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) had decided twice against renewing the marketing authorisation for Translarna (ataluren) for Duchenne muscular dystrophy (DMD). In May 2024, the European Commission annulled the procedure on the grounds of procedural irregularities. It asked the EMA to re-analyse the available evidence, … [Read more]
A probable Finnish founder effect in a form of congenital myasthenic syndrome
Finnish researchers report the clinical and biological data of 15 patients from 14 unrelated, non-consanguineous families diagnosed with congenital myasthenic syndrome (CMS) linked to the DOK7 gene: all were homozygous carriers of a mutation in the DOK7 gene (c.1508dupC), this was accompanied by considerable variability in phenotypic expression, the authors distinguished between two groups, one … [Read more]
Respiratory function in SMA patients treated with gene therapy
A growing number of infants diagnosed with spinal muscular atrophy (type I or type II) are benefiting from adeno-associated virus (AAV)-mediated gene therapy. Clinicians at the Necker-Enfants Malades hospital report on their respiratory progress: 15 infants (including one case of SMA type II) with a median age of 8.6 months (3.8 to 12.6 months) were … [Read more]
A meta-analysis of the efficacy and safety of the onasemnogen abeparvovec in SMA
Brazilian researchers have compiled data from the literature on one of three innovative drugs designed to treat children with type 1 spinal muscular atrophy (SMA1). The onasemnogene abeparvovec (Zolgensma®) is the first gene therapy product to have marketing authorisation for this indication: the authors selected four publications corresponding to three clinical trials (START, STR1VE-US and … [Read more]
