Blog Archives

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]

The identification of noninvasive biomarkers to monitor the disease progression in spinal muscular atrophy (SMA) is becoming increasingly important. MicroRNAs (miRNAs) regulate gene expression and are implicated in the pathogenesis of neuromuscular diseases, including motor neuron degeneration. In this study, the authors selectively characterized the expression of miR-9, miR-206, and miR-132 in spinal cord, skeletal … [Read more]

Spinal muscular atrophy (SMA) affects multiple organ systems with varying degrees of severity. Exploration of the molecular pathological changes occurring in different cell types in SMA is crucial for developing new therapies. This study collected 39 human microarray datasets from ArrayExpress and GEO databases to build an integrative transcriptomic analysis for recognizing novel SMA targets. … [Read more]