Myology research highlights
RSS feedRestoration of brain dystrophin improves memory in mdx mice
In a study published in May 2022, two French teams succeeded in partially restoring dystrophin in certain brain regions of adult mdx mice, an animal model of Duchenne muscular dystrophy, thereby improving certain cognitive functions affected in the disease. The researchers administered optimised tricyclo-DNA antisense by intracerebroventricular injection to correct the reading frame of the … [Read more]
National recommendations for the management of dysimmune polyradiculoneuritis
In conjunction with the healthcare authorities, a group of practitioners from the FILNEMUS neuromuscular healthcare network has drawn up recommendations for the rational use of intravenous immunoglobulins (IVIg) in chronic inflammatory demyelinating polyneuropathy (CIDP): these recommendations arise in the context of the shortage of IVIg experienced by patients with CIDP, particularly at the time of … [Read more]
A European study clarifies the cardiac phenotype of children with muscular laminopathy
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes of laminopathy: 13 presented with an Emery-Dreifuss type phenotype, 11 with LMNA-related congenital muscular dystrophy (L-CMD), two with limb-girdle muscular dystrophy and two with moderate muscular deficiency, During follow-up, six … [Read more]
Towards better recognition of AINM in children
On the occasion of the diagnosis of a case of autoimmune necrotizing myopathy (AINM) in one of their patients, two Japanese physicians provide an update on this infrequent and therefore poorly understood pathology in paediatrics: an exhaustive and critical analysis of the literature enabled them to identify 33 cases of AINM in patients under the … [Read more]
Cognitive profile and treatment in SMA type I
A study reveals for the first time the effects of three available treatments for SMA on the cognitive profile of infants with SMA type I: 18 infants participated in the study, 11 SMA type I treated post-symptomatically and 7 presymptomatically, 11 received Spinraza, three received Evrysdi and four received Zolgensma, In the presymptomatically treated infants, … [Read more]
Is dystrophin in plasma a new biomarker for DMD?
European researchers have demonstrated the presence of dystrophin in the plasma of patients with Duchenne muscular dystrophy (DMD): Using two antibodies specifically directed against dystrophin, fragments of this protein were found in the plasma of DMD patients, unlike in healthy subjects, DMD transmitters or patients with other neuromuscular diseases whose plasma did not contain any. … [Read more]
Base editing, under investigation in SMA
Two teams investigated the base editing technique to convert the SMN2 gene into the SMN1 gene: in cell models of SMA, the exchange of the different base of exon 7 of the SMN2 gene was successful (with minimal “off-target”), In SMA mouse models, SMN protein production is increased and motor function is improved, the life … [Read more]
NOTCH2NLC gene study in a large cohort of patients with CMT disease
Charcot-Marie-Tooth disease (CMT) is very heterogeneous both phenotypically and genetically. Japanese researchers studied 1783 CMT patients without a molecular signature and applied a sequencing technique called long-read: 26 patients belonging to 22 families had a pathological nucleotide expansion located in the NOTCH2NLC gene, this gene is known to give a distal oculo-pharyngeal myopathy, the authors … [Read more]
The relevance of genome editing coupled with cell therapy in the treatment of calpainopathies
German researchers have developed a cell therapy coupled with a CRISP-Cas9-based genome editing technique in a transgenic mouse with the c.550delA founder mutation in the homozygous state in the CAPN3 gene encoding calpain-3 (calpain-related LGMD-R1): the edited cells were able to re-express the calpain-3 protein transcripts in the normal state, demonstrating that genome editing was … [Read more]
A reliable biomarker to predict response to gene therapy in SMA
French clinicians from the Filnemus network report the results of a prospective study aimed at measuring the predictive value of muscle action potential amplitude (CMAP) coupled with a motor score in infants with spinal muscular atrophy (SMA) destined to receive gene replacement therapy. 13 symptomatic infants followed at the Necker Enfants Malades University Hospital (Paris) … [Read more]
