Myology research highlights
RSS feedAnti-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]
Dual exon skipping of dystrophin and myostatin in neonatal mdx mice
The fatal X-linked Duchenne muscular dystrophy (DMD), characterized by progressive muscle wasting and muscle weakness, is caused by mutations within the DMD gene. The use of antisense oligonucleotides (AOs) modulating pre-mRNA splicing to restore the disrupted dystrophin reading frame, subsequently generating a shortened but functional protein has emerged as a potential strategy in DMD … [Read more]
Eyeblink conditioning is not impaired in DMD
In addition to progressive muscle weakness, cognitive deficits have been reported in patients with Duchenne muscular dystrophy (DMD). Cerebellar dysfunction has been proposed to explain cognitive deficits at least in part. In animal models of DMD disturbed Purkinje cell function has been shown following loss of dystrophin. Furthermore there is increasing evidence that the … [Read more]
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development
Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models, only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in rare diseases with large unmet needs and a limited numbers of patients who can be enrolled into clinical trials. TREAT-NMD … [Read more]
Can ultrasound elastography replace MRI in detecting active myositis in children?
Juvenile idiopathic inflammatory myopathy is a rare yet potentially debilitating condition. MRI is used both for diagnosis and to assess response to treatment. No study has evaluated the performance of US elastography in the diagnosis of this condition in children. This study assessed the performance of compression-strain US elastography in detecting active myositis in children … [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 in fourteen affected individuals in a 6-generation family. Participants were examined at pediatric, neuromuscular, and research clinics … [Read more]
