Myology research highlights

Here, researchers from the Institute of Myology have focused on walking difficulties and balance problems in a population of 22 adults affected in DM1, with an average age of 42 years, was compared to a matched group of similar age. The study evaluated gait using lower-trunk accelerometry and investigated relationships between gait abnormalities, postural instability, … [Read more]

The prevalence and the incidence of atrial flutter in patients with myotonic dystrophy type 1 (DM1) and the most appropriate strategies for its management are unknown. Atrial flutter is a common manifestation of this disease, potentially complicated by arterial thromboembolism or severe bradyarrhythmias. In this article, a team of french clinicians retrospectively included in the … [Read more]

The most common form of Myasthenia gravis (MG) is due to anti-acetylcholine receptor (AChR) antibodies and is frequently associated with thymic pathology. In this review, a team of french researchers, including Team 7 from the Institute of Myology, discuss the immunopathological characteristics and molecular mechanisms of thymic follicular hyperplasia, the effects of corticosteroids on this … [Read more]

This retrospective cross-sectional study describes the frequency and clinical features of patients with double-seronegative myasthenia gravis (dSNMG) who have cortactin antibodies. Cortactin plays a critical role in the development of the neuromuscular jusntion. The authors investigated serum samples from 38 patients with clinically and electrophysiologically defined MG who were negative for AChR and MuSK antibodies. … [Read more]

This study describes a family with mutations in TOR1AIP1 TorsinA-interacting protein 1 (TOR1AIP1), a novel gene that has recently been described to cause limb-girdle muscular dystrophy (LGMD) with mild dilated cardiomyopathy. In this family, the noticeable clinical feature is severe cardiac failure requiring cardiac transplant in two siblings, in addition to musculoskeletal weakness and muscular … [Read more]

In patients with autoimmune diseases who still derive benefit from high dose intravenous immunoglobulin (IVIg) treatment, some physicians resort to subcutaneous (SC) Ig as a replacement therapy. In this observational study, the authors collected quality of life (QoL) and tolerance data on SCIg in patients for whom the switch from IVIg to SCIg is essential … [Read more]

This study aimed to develop a measure of myasthenia gravis impairment using a previously developed framework and to evaluate reliability and validity, specifically face, content, and construct validity. The first draft of the Myasthenia Gravis Impairment Index (MGII) included examination items from available measures enriched with newly developed, patient-reported items, modified after patient input. International … [Read more]

Derepression of DUX4 in skeletal muscle has emerged as a likely cause of pathology in facioscapulohumeral muscular dystrophy (FSHD). Here, the authors describe a proof-of-concept study of the therapeutic potential of antisense phosphorodiamidate morpholino oligonucleotides (PMOs) for the treatment of FSHD, by targeting DUX4 and demonstrating efficacy in both FSHD myogenic cells and human muscle … [Read more]

Rhabdomyolysis is often due to a combination of environmental trigger(s) and genetic predisposition; however, the underlying genetic cause remains elusive in many cases. Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. Here, the authors present a … [Read more]

Collagen VI (COLVI) is a non-fibrillar collagen expressed in skeletal muscle and most connective tissues. Mutations in COLVI genes cause two major clinical forms, Bethlem myopathy and Ullrich congenital muscular dystrophy (UCMD). In addition to congenital muscle weakness, patients affected by COLVI myopathies show axial and proximal joint contractures and distal joint hypermobility, which suggest … [Read more]