Myology research highlights
RSS feedPredominant expiratory muscle dysfunction in FSHD
Respiratory insufficiency in facioscapulohumeral muscular dystrophy has rarely been studied. This study compared two age- and sex-matched groups of 29 patients, with and without respiratory dysfunction. Tests in the 29 patients with respiratory dysfunction suggested predominant expiratory muscle dysfunction, leading to ineffective cough in 17 patients. Supine and upright vital capacities were not different (P = 0.76), … [Read more]
Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy
Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of drug effects, and be useful as surrogate outcome measures to predict later clinical benefit. In this study a large-scale biomarker discovery was performed on serum samples from patients with DMD and age-matched … [Read more]
SMN2 splice modulators extend survival in SMA mice
Spinal muscular atrophy (SMA), which results from the loss of expression of the survival of motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric mortality. A duplicate copy (SMN2) is inefficiently spliced, producing a truncated and unstable protein. This study describes a potent, orally active, small-molecule enhancer of SMN2 splicing that elevates … [Read more]
Mutations in ACTA1 cause severe congenital actin related myopathy
Mutations in ACTA1 have been associated with different pathologic findings including nemaline myopathy, intranuclear rod myopathy, actin myopathy, cap myopathy, congenital fiber type disproportion, and core myopathy. Myofibrillar myopathies are morphologically distinct but genetically heterogeneous muscular dystrophies arising from mutations in Z-disk related proteins. Here, the authors report a 26-month-old boy with significantly delayed motor … [Read more]
A new scapuloperoneal phenotype associated with an ACTA1 mutation
New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. This study aimed to determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromuscular disorder by using linkage and exome sequencing. The large family (14 affected individuals from 6 generations) evaluated in … [Read more]
Identifying myasthenia gravis patients at risk of exacerbations and emergency treatments
Disease course in myasthenia gravis (MG) patients is highly variable. Prognostic factors that identify patients at risk for a more severe disease course would be helpful in clinical practice. Here, the authors investigated MG patients under treatment at their university medical center between 1993 and 2013. The impact of baseline characteristics on the occurrence of … [Read more]
New guideline for CMD diagnosis and care
This study aimed to delineate optimal diagnostic and therapeutic approaches to congenital muscular dystrophy (CMD) through a systematic review and analysis of the currently available literature. The authors found that geographic and ethnic backgrounds, clinical features, brain imaging studies, muscle imaging studies, and muscle biopsies of children with suspected CMD help predict subtype-specific diagnoses. Genetic … [Read more]
Impact of home use of mechanical airway clearance devices on health service utilisation
People with neuromuscular disorders (NMD) exhibit weak coughs and are susceptible to recurrent chest infections and acute respiratory complications, the most frequent reasons for their unplanned hospital admissions. Mechanical insufflation-exsufflation (MI-E) devices are a non-invasive method of increasing peak cough flow, improving cough efficacy, the clearance of secretion and overcoming atelectasis. There is limited published … [Read more]
Psychometric properties of the Duke Health Profile in neuromuscular disease population
This prospective multicentre study aimed to investigate the psychometric properties of the Duke Health Profile (DHP) and its validity among adult patients from centers in Reims, Dijon and Besancon, suffering from slowly progressive neuromuscular disorders (NMD). A total of 139 patients were included. The acceptability of the DHP was excellent. The disability dimension showed marked … [Read more]
FDA approved testing of OPMD Drug
BioBlast Pharma, based in Tel Aviv, Israel, has been given clearance from the U.S. Food and Drug Administration (FDA) to test its experimental drug Cabaletta in the U.S. in people with oculopharyngeal muscular dystrophy (OPMD). Cabaletta is a chemical chaperone, designed to prevent abnormal protein aggregation, a phenomenon thought to contribute to muscle weakness in … [Read more]
