Myology research highlights

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]

The U.S. Food and Drug Administration (FDA) has granted Fast Track designation to Akashi Therapeutics’ most advanced product candidate, HT-100 (delayed-release halofuginone), an orally available, small molecule drug candidate intended to reduce fibrosis and inflammation and promote healthy muscle regeneration in boys with DMD. Fast track designation is granted by the FDA to facilitate the … [Read more]

Dystroglycan is a transmembrane glycoprotein whose interactions with the extracellular matrix (ECM) are necessary for normal muscle and brain development, and disruptions of its function lead to dystroglycanopathies, a group of congenital muscular dystrophies showing extreme genetic and clinical heterogeneity. Specific glycans bound to the extracellular portion dystroglycan, α-dystroglycan, mediate ECM interactions and most known … [Read more]

Congenital muscular dystrophies (CMDs) are early onset disorders of muscle with histological features suggesting a dystrophic process. The congenital muscular dystrophies as a group encompass great clinical and genetic heterogeneity so that achieving an accurate genetic diagnosis has become increasingly challenging, even in the age of next generation sequencing. In this document, the authors review … [Read more]

MFM is a rare, progressive and devastating disease of human skeletal muscle with distinct histopathological pattern of protein aggregates and myofibrillar degeneration. So far, only heterozygous missense mutations in MYOT have been associated with autosomal dominant myofibrillar myopathy, limb-girdle muscular dystrophy type 1A and distal myopathy. Myotilin itself is significantly expressed in skeletal and cardiac … [Read more]

In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is involved early and often difficult to assess, relying only on physical examination. This study aimed to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. An MRI protocol evaluating neck and upper girdle … [Read more]

Despite the recent progress in the broad-scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to apply discovery driven protein profiling in rare diseases. In this paper, the authors addressed this challenge by combining … [Read more]

Prosensa Holding NV has announced that the U.S. Food and Drug Administration has outlined an accelerated regulatory approval path for its most advanced drug, aimed at treating a Duchenne muscular dystrophy (DMD). The Netherlands-based company plans to conduct two more studies, and file for U.S. marketing approval later this year, before filing for European approval … [Read more]

Summit plc, an Oxford-based biotech company, has announced preliminary results of their phase 1b trial of SMT C1100 – a potential drug developed to increase levels of utrophin in the muscles of boys with Duchenne muscular dystrophy (DMD). The potential drug was developed in Professor Dame Kay Davies’ laboratory and can increase levels of utrophin … [Read more]

Daytime mouthpiece ventilation is a useful adjunct to nocturnal noninvasive ventilation (NIV) in patients with neuromuscular disease. The aims of the study were to analyze the practice of mouthpiece ventilation and to evaluate the performance of ventilators for mouthpiece ventilation. Practice of mouthpiece ventilation was assessed by a questionnaire, and the performance of 6 home … [Read more]