Blog Archives

Duchenne muscular dystrophy (DMD) is a progressive and fatal muscle degenerating disease caused by a dystrophin deficiency. Effective suppression of the primary pathology observed in DMD is critical for treatment. Patient-derived human induced pluripotent stem cells (hiPSCs) are a promising tool for drug discovery. Here, we report an in vitro evaluation system for a DMD … [Read more]

In this study, the authors performed whole-exome sequencing and targeted exome sequencing in order to identify the genetic etiology and characterise the clinicopathologic features of a novel distal myopathy. They also evaluated the pathogenicity of identified mutations using immunohistochemistry, Western blot analysis, and expression studies. Sequencing identified a likely pathogenic c.1165+1 G>A splice donor variant … [Read more]

GNE myopathy is an autosomal-recessive disorder caused by mutations in the GNE gene, encoding the key enzyme in the sialic acid biosynthetic pathway, UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase. This study describes 50 Bulgarian Roma patients homozygous for p.I618T, an ancient founder mutation in the kinase domain of the GNE gene, dating before the Gypsy exodus from … [Read more]

The aim of this study was to establish the possible effect of glucocorticoid treatment on upper limb function in a cohort of 91 non-ambulant DMD boys and adults of age between 11 and 26 years. All 91 were assessed using the Performance of Upper Limb test. Forty-eight were still on glucocorticoid after loss of ambulation, … [Read more]

The American Academy of Neurology and American Association of Neuromuscular & Electrodiagnostic Medicine have published new recommendations for the evaluation, diagnosis, prognostication, and treatment of patients with facioscapulohumeral muscular dystrophy (FSHD] patients. The guideline emphasizes the use of genetic testing to confirm diagnosis, and treatment of FSHD-associated complications involving breathing, hearing loss and pain. The … [Read more]

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]