Myology research highlights

In this study, researchers from the Institute of Myology describe quantitative NMRI and 31 P NMRS indices in the forearms of 24 patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping therapy and in 12 age-matched male controls (CONT). Examinations carried out at 3 T comprised multi-slice 17-echo measurements of muscle water T2 and … [Read more]

Limb-girdle muscular dystrophy type 2E (LGMD2E) results from mutations in the β-sarcoglycan (SGCB) gene causing loss of functional protein and concomitant loss of dystrophin-associated proteins. The disease phenotype is characterized by muscle weakness and wasting, and dystrophic features including muscle fiber necrosis, inflammation, and fibrosis. The Sgcb-null mouse recapitulates the clinical phenotype with significant endomysial … [Read more]

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene. It is the most common, severe childhood form of muscular dystrophy. Here, the authors investigated an alternative to dystrophin replacement by overexpressing the human α7 integrin gene (ITGA7) using adeno-associated virus (AAV) delivery. ITGA7 is a laminin receptor in skeletal muscle that, like … [Read more]

Myasthenia gravis (MG), a rare neuromuscular disease, is often initially treated using acetylcholinesterase inhibitors. Patients who do not respond adequately depend on the use of corticosteroids or other immunosuppressive medication, but these may have serious side effects. Clinical observations suggest that ephedrine can diminish, postpone or even prevent the need for immunosuppressive therapy when added … [Read more]

Inclusion body myositis (IBM) is a late-onset inflammatory muscle disease (myopathy) associated with progressive proximal and distal limb muscle atrophy and weakness. Treatment options have attempted to target inflammatory and atrophic features of this condition (for example with immunosuppressive and immunomodulating drugs, anabolic steroids, and antioxidant treatments), although as yet there is no known effective … [Read more]

Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Female DMD/BMD carriers (DMDc/BMDc) are mostly free of skeletal muscle symptoms, but they are also prone to cardiomyopathy. This study aimed to characterize the frequency, pattern, and extent of cardiomyopathy in 36 female DMD/BMD … [Read more]

Parent Project Muscular Dystrophy (PPMD) is a patient advocacy foundation focused on advancing research that will lead to treatments for Duchenne and Becker muscular dystrophy  (DMD and BMD) PPMD has updated Duchenne Anesthesia Recommendations on its website. Indeed, new evidence suggests that while rhabdomyolysis may still be possible with inhaled anesthetics, it is rare, and unrelated … [Read more]

A study recently published in Nature Biotechnology revealed a new technique to generate muscle fibers, thus offering a better model to study muscular diseases including Duchenne muscular dystrophy (DMD). During embryonic development, skeletal muscles arise from somites, which derive from the presomitic mesoderm (PSM). Using PSM development as a guide, the authors establish conditions for … [Read more]

To assess health-related quality of life (HRQL) in patients suffering from slowly progressive neuromuscular disease (NMD) using item response theory (IRT), a questionnaire called QoL-NMD was developed. It is composed of two general items and 24 items classified in three domains: (1) “Impact of Physical Symptoms,” (2) “Self-perception” and (3) “Activities and Social Participation.” Each … [Read more]

Congenital myasthenic syndromes are inherited disorders that arise from impaired signal transmission at the neuromuscular junction. Mutations in at least 20 genes are known to lead to the onset of these conditions. Four of these, ALG2, ALG14, DPAGT1 and GFPT1, are involved in glycosylation. This study presents a fifth glycosylation gene, GMPPB, where mutations cause … [Read more]