Myology research highlights

With the advent of whole exome sequencing, cases where no pathogenic coding mutations can be found are increasingly being observed in many diseases. In two large, distantly-related families that mapped to the Charcot-Marie-Tooth neuropathy CMTX3 locus at chromosome Xq26.3-q27.3, all coding mutations were excluded. Using whole genome sequencing, the authors of this study found a … [Read more]

Proximal spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder caused by deletion or mutation of the survival of motor neuron 1 (SMN1). Here, the authors studied SMA molecular pathology in 653 Chinese patients and found approximately 88.2% with homozygous SMN1 exon 7 deletion and 6.3% with heterozygous exon 7 loss using multiplex … [Read more]

Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy, impaired respiratory muscle function and cardiomyopathy. The correlation and the prognostic impact of respiratory and heart impairment are poorly described. A group of french clinicians aimed to describe the long-term cardiac and … [Read more]

In this article, researchers from the Institute of Myology explored the value of nuclear magnetic resonance (NMR) and functional assessments for follow-up of ambulatory and nonambulatory patients with Duchenne muscular dystrophy (DMD). The study includes twenty-five 53-skippable patients with DMD; 15 were nonambulatory at baseline. All patients underwent clinical and functional assessments every 6 months … [Read more]

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]