Myology research highlights

In facioscapulohumeral dystrophy (FSHD), hypomethylation is moderate and heterogeneous in patients. To date, a correlation between hypomethylation and disease presence or severity has not been demonstrated. Here, the authors investigated the link between DNA hypomethylation and clinical penetrance in 95 FSHD cases (37 FSHD1, 29 asymptomatic individuals carrying a shortened D4Z4 array, 9 patients with … [Read more]

The investigational oral drug ataluren, in development to treat Duchenne muscular dystrophy (DMD) resulting from a specific type of genetic mutation, has received conditional approval in the European Union (EU). This designation allows patients to gain access to an experimental drug before it is fully approved. Ataluren, originally known as PTC124 and now bearing the … [Read more]

Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders. In this randomized, double-blind, placebo-controlled study males ≥5 years with nm-dystrophinopathy received study drug orally 3 times daily, ataluren 10, 10, 20 … [Read more]

The objective of this study was to use patient data to evaluate and construct diagnostic criteria for inclusion body myositis (IBM), a progressive disease of skeletal muscle. The literature was reviewed to identify all previously proposed IBM diagnostic criteria. These criteria were applied through medical records review to 200 patients diagnosed as having IBM and … [Read more]

Myasthenia gravis (MG) is an autoimmune disease caused by antibodies against neuromuscular junction proteins, 85% of patients have antibodies against acetylcholine receptor (AChR-MG). Antititin antibodies are present in a subset of patients with MG. This study aimed to determine the value of antititin antibodies as severity markers and thymoma predictors in early- and late-onset MG. … [Read more]

Antisense therapy with both chemistries of phosphorodiamidate morpholino oligomers (PMOs) and 2′-O-methyl phosphorothioate has demonstrated the capability to induce dystrophin expression in Duchenne muscular dystrophy (DMD) patients in phase II-III clinical trials with benefit in muscle functions. However, potential of the therapy for DMD at different stages of the disease progression is not understood. This … [Read more]

Duchenne muscular dystrophy (DMD) is still an untreatable lethal X-linked disorder affecting1 in 3500 male births. It is caused by the absence of muscle dystrophin due to mutations in the dystrophin gene. The potential regenerative capacity as well as immune privileged properties of mesenchymal Stem Cells (MSC) has been under investigation for many years in … [Read more]

Ullrich congenital muscular dystrophy (UCMD) is an inherited muscle disorder characterized clinically by muscle weakness, distal joint hyperlaxity, and proximal joint contractures. Sporadic and recessive mutations in the three collagen VI genes, COL6A1, COL6A2, and COL6A3, are reported to be causative. In the sporadic forms, a heterozygous point mutation causing glycine substitution in the triple … [Read more]

To monitor treatment effects in patients with congenital myopathies and congenital muscular dystrophies, valid outcome measures are necessary. In this observational study based on data previously collected from several cohorts, the Motor Function Measure (MFM) was examined for robustness and changes are proposed for better adequacy. A total of 289 patients aged 5 to 77 … [Read more]

In this article, the author discusses the case for systematic genetic screening of newborns and children at-risk of developing or carrying mutations for Duchenne Muscular Dystrophy (DMD). Belgium remains the only country to conduct systematic newborn screening and follow-up testing for DMD. Germany, Wales and Canada have abandoned DMD routine genetic testing and the US … [Read more]