Myology research highlights

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]

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]

In this study, genome-wide homozygosity mapping was used to map a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family: three individuals manifesting proximal and distal weakness and atrophy were affected, with rigid spine and contractures of the proximal and distal interphalangeal hand joints. Additionally, cardiomyopathy and respiratory involvement were noted. DNA sequencing … [Read more]

Myostatin regulates skeletal muscle size via the activin receptor IIB (ActRIIB). However, its effect on muscle energy metabolism and energy dependent muscle function remains largely unexplored. This question needs to be solved urgently since various therapies for neuromuscular diseases based on blockade of ActRIIB signaling are being developed. Here, the authors show that four months … [Read more]

Natural history studies in sporadic inclusion body myositis are of fundamental interest for future therapeutic trials. Previous studies have demonstrated the particular relevance of knee extension strength in the follow-up of this disease. Here, the authors aimed to extend an earlier 9-month natural history study to a four-year period. Thirteen patients were assessed using clinical … [Read more]

Clinically amyopathic dermatomyositis (CADM) is characterized by the presence of specific cutaneous manifestations of dermatomyositis (DM) without clinical signs of muscular involvement. The aim of this study was to examine the prevalence, clinical characteristics, and outcome of patients with CADM followed at our Rheumatology Unit. Clinical charts of patients diagnosed as DM were retrospectively examined. … [Read more]

This study aimed to characterize the clinical and myopathological features of patients with scleroderma-polymyositis (SSc-PM) overlap syndrome compared to a population of patients with systemic sclerosis (SSc) and polymyositis (PM). A three-way comparison of clinical and myopathological features and causes of death was carried out between patients with SSc-PM overlap syndrome (n = 25), patients … [Read more]

Facioscapulohumeral dystrophy (FSHD) is caused by decreased epigenetic repression of the D4Z4 macrosatellite array and recent studies have shown that this results in the expression of low levels of the DUX4 mRNA in skeletal muscle. Several other mechanisms have been suggested for FSHD pathophysiology and it remains unknown whether DUX4 expression can account for most … [Read more]