Myology research highlights
RSS feedIdentifying 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]
Anti-SRP antibodies determine a distinct subset of inflammatory myopathy
Anti-signal recognition particle (SRP) antibodies are used as serological markers of necrotizing myopathy, which is characterized by many necrotic and regenerative muscle fibers without or with minimal inflammatory cell infiltration. The clinical spectrum associated with anti-SRP antibodies seems to be broad. In this study clinical and laboratory findings of 100 patients with inflammatory myopathy and … [Read more]
Activation of the unfolded protein response in sporadic inclusion-body myositis
Muscle fibers in patients with sporadic inclusion-body myositis (s-IBM), the most common age-associated myopathy, are characterized by autophagic vacuoles and accumulation of ubiquitinated and congophilic multiprotein aggregates that contain amyloid-β and phosphorylated tau. Muscle fibers of autosomal-recessive hereditary inclusion-body myopathy caused by the GNE mutation (GNE-h-IBM) display similar pathologic features, except with less pronounced congophilia. … [Read more]
RYR1-related myopathies: a wide spectrum of phenotypes throughout life
Although several recent studies have implicated RYR1 mutations as a common cause of various myopathies and the malignant hyperthermia susceptibility (MHS) trait, many of these studies have been limited to certain age groups, confined geographical regions or specific conditions. The aim of this retrospective cohort study was to investigate the full spectrum of RYR1-related disorders … [Read more]
Development of criteria related to household activities to assist the referral of DM1 patients to rehabilitation services
In this study, the authors aimed to assess upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1 (DM1). A cross-sectional study was set in an outpatient neuromuscular clinic where 200 adults with a confirmed diagnosis of DM1 (121 women; mean age: … [Read more]
MuStem cell transplantation: first demonstration of differential gene expression in a DMD-like context
Several adult stem cell populations exhibit myogenic regenerative potential, thus representing attractive candidates for therapeutic approaches of neuromuscular diseases such as Duchenne Muscular Dystrophy (DMD). The authors of the present study have recently demonstrated that systemic delivery of MuStem cells, skeletal muscle-resident stem cells isolated in healthy dog, generates the remodelling of muscle tissue and … [Read more]
