Myology research highlights
RSS feedQT segment shortening induces fatal arrhythmias in primary carnitine deficiency
A French retrospective study of 19 patients with primary carnitine deficiency, aged between 4 months and 28.9 years (median 2.3 years) at diagnosis, found : ventricular rhythm disorders in 4 of them (two ventricular fibrillations, one ventricular tachycardia and one sudden death) and cardiomyopathy in 16 cases ; six of the 11 electrocardiograms available before … [Read more]
The French version of the PedsQL® quality of life scale adapted to DMD is now validated
Until recently, there was no specific tool for assessing the quality of life of children and adolescents with Duchenne muscular dystrophy (DMD). A group of French neuropaediatricians tested the French version of the PedsQL module dedicated to DMD: 107 DMD patients and their parents were included in the validation study, four dimensions were explored (daily … [Read more]
OPMD: Established and emerging biomarkers
In order to gain a better understanding of the natural history of oculopharyngeal muscular dystrophy (OPMD) and with a view to therapeutic trials, Canadian researchers have produced a comprehensive review of the various biomarkers for this late-onset myodegenerative disease: the triplet expansion required to confirm the diagnosis and assess the phenotype must now be expressed … [Read more]
A Japanese cohort of patients with myasthenia gravis with MuSK autoantibodies
A Japanese consortium of clinicians reports the clinical and paraclinical data of a large series of patients diagnosed with anti-MuSK antibody-positive myasthenia gravis: 51 patients were included in the study from an initial sample of 1,710 patients with myasthenia gravis (3% of the total), two patients double-positive for MuSK protein and acetylcholine receptor were excluded beforehand, … [Read more]
Initial results on the safety of home enzyme therapy in Pompe disease
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered in the Netherlands since 2008. The results were published in May 2023: the study analysed data from 116 patients (including 82 with the adult form) receiving a home infusion of … [Read more]
Myotubular myopathy: the encouraging lead of PI3KC2β inactivation
In the November 2023 issue of Cahiers de myologie, the team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), repeat in French the results they obtained and published in English in May 2023 in the journal JCI Insight: total selective inactivation of PI3KC2β kinase activity prevents muscle atrophy and weakness, as … [Read more]
Preliminary results from the PREMIER trial do not confirm the efficacy of PXT 3003 in CMT 1A
PXT 3003 is a drug candidate developed by Pharnext. It has already been the subject of two clinical trials, launched in 2010 and 2015, and of an international phase 3 trial between 2021 and 2023, notably in France. Its preliminary results were announced in a press release in December 2023. The ONLS score was reported … [Read more]
Respiratory complications are still common in myasthenic crises
A multicentre study conducted in Germany has provided a better understanding of the determinants of respiratory complications during acute attacks of myasthenia gravis: 12 centres took part in the study and pooled the clinical data of 197 patients, this corresponded to 217 acute episodes requiring mechanical ventilation in intensive care, 64% of patients had difficulty … [Read more]
Atypical mitochondrial profile in Jokela spinal muscular atrophy
Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with a higher prevalence in Finland: the clinical and biochemical data of 11 Finnish patients were compared with those of 26 patients with mitochondriopathies and 28 healthy subjects, all underwent a … [Read more]
A comparative study of different motor function assessment scales in DMD
British specialists in the UK-NorthStar network have published comparative data on three motor function assessment tools used in Duchenne muscular dystrophy (DMD): the “NorthStar” scale, the 10-metre walking speed test and the time taken to rise from a seated position to the ground, their results were compiled and compared in a cohort of 826 DMD … [Read more]
