Blog Archives

Duchenne muscular dystrophy (DMD) is a monogenic disorder and a candidate for therapeutic genome editing. There have been several recent reports of genome editing in preclinical models of DMD, however, the long-term persistence and safety of these genome editing approaches have not been addressed. Here, researchers show that genome editing and dystrophin protein restoration is … [Read more]

Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists. An Italian team hypothesizes that assessing the GAA activity in suspected patients by … [Read more]

A pathogenic role of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) antibodies has been proposed. The objective of the study was to assess efficacy of rituximab (RTX) in anti-HMGCR immune-mediated necrotizing myopathy. All patients who had been treated with RTX were retrospectively reviewed to assess features and outcome. Three of 9 patients demonstrated stable or improved muscle strength … [Read more]

The aim of this national multicenter cohort study was to compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. A European team including clinicians from the Institute of Myology measured motor strength, motor function, and … [Read more]

This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, … [Read more]

Myology2019, the sixth edition of the international congress of myology organized by AFM-Telethon, took place in Bordeaux, France, from March 25 to 28. The congress gathered more than 800 researchers and scientific experts from 35 countries worldwide. Seven plenary sessions, 12 parallel sessions, 5 industry symposiums, and more than 400 scientific posters highlighted current issues … [Read more]

Myositis is a heterogeneous group of muscular auto-immune diseases with clinical and pathological criteria that allow the classification of patients into different sub-groups. Inclusion body myositis is the most frequent myositis above fifty years of age. Diagnosing inclusion body myositis requires expertise and is challenging. Little is known concerning the pathogenic mechanisms of this disease … [Read more]

Mitofusin-2 (MFN2) is a mitochondrial outer-membrane protein that plays a pivotal role in mitochondrial dynamics in most tissues, yet mutations in MFN2, which cause Charcot-Marie-Tooth disease type 2A (CMT2A), primarily affect the nervous system. An American team generated a transgenic mouse model of CMT2A that developed severe early onset vision loss and neurological deficits, axonal … [Read more]

In order to evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes, a team of Danish and French clinicians evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Follow-up was performed for major events. The authors included 130 patients, 55 men (42%), with a mean … [Read more]

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked metabolic disorder caused by mutations in the PGK1 gene. Patients usually develop various combinations of non-spherocytic hemolytic anemia (NSHA), myopathy, and central nervous system disorders. In this national multicenter observational retrospective study, the French clinicians recorded all known French patients with PGK deficiency, and 3 unrelated patients … [Read more]