Myology research highlights

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 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]

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]

Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neuromuscular diseases – there is no effective treatment. Foot and ankle weakness is a major problem for children with CMT, thus interventions that focus on maintaining and increasing strength may provide a solution. In this randomised, controlled trial, the effect and safety of progressive resistance … [Read more]

This study aimed to identify point mutations in a group of 606 patients diagnosed for spinal muscular atrophy (SMA) with excluded biallelic loss of the SMN1 gene. Point missense mutations or small deletions in the SMN1 gene were ultimately identified in 18 patients. Six patients were found to have small deletions, the c.429_435del mutation in … [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]