Myology research highlights

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Cells of Matter – In Vitro Models for Myotonic Dystrophy

Denis Furling’s team (Pathophysiology & Biotherapy of Myotonic Dystrophy, Myology Centre for Research, Institute of Myology) has just published a review on relevant cellular models to study Myotonic dystrophy type 1. Myotonic dystrophy type 1 (DM1 also known as Steinert disease) is a multisystemic disorder mainly characterized by myotonia, progressive muscle weakness and wasting, cognitive … [Read more]

PAX7 target genes are globally repressed in FSH skeletal muscle

Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to hypomethylation of D4Z4 repeats on chromosome 4q causing expression of the DUX4 transcription factor. However, DUX4 is difficult to detect in FSHD muscle biopsies and it is debatable how robust changes in DUX4 target gene expression are as an FSHD biomarker. PAX7 is a … [Read more]

Significant reduction in examination time and user interaction with an automated whole-body MRI workflow

This prospective study aimed to evaluate the performance of an automated workflow for whole-body magnetic resonance imaging (WB-MRI), which reduces user interaction compared with the manual WB-MRI workflow. Twenty patients underwent WB-MRI for myopathy evaluation on a 3 T MRI scanner. Ten patients (7 women; age, 52 ± 13 years; body weight, 69.9 ± 13.3 … [Read more]

Refining the phenotype associated with MuSK-related CMS

Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, the authors describe four additional patients and discuss the phenotypic and clinical … [Read more]

Detailed clinical characterisation of congenital titinopathy

The authors of this study performed a comprehensive clinical characterisation of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. They used massively parallel sequencing to identify 30 patients from 27 families with two pathogenic nonsense, frameshift and/or splice site TTN mutations in trans. They then undertook a detailed analysis of the … [Read more]

Clostridium difficile cure with fecal microbiota transplantation in a child with Pompe disease

Recurrent Clostridium difficile infection is a growing problem among children due to both the increasing survival of medically fragile children with complicated chronic medical conditions resulting in prolonged antibiotic exposure and hospitalization and the emergence of strains of Clostridium difficile that are hypervirulent and associated with high rates of relapse. This case describes a medically … [Read more]

Serum proteomic analysis to follow DMD and BMD disease progression

Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype. Muscle tissue is often investigated during interventional dose finding studies to show in situ proof of concept and pharmacodynamics effect of the tested drug. Less invasive readouts are needed to objectively monitor patients’ … [Read more]

Role of miR-708-5p and miR-34c-5p in nNOS regulation in dystrophic muscle

Duchenne (DMD) and Becker (BMD) muscular dystrophies are caused by mutations in the DMD gene coding for dystrophin, a protein being part of a large sarcolemmal protein scaffold that includes the neuronal nitric oxide synthase (nNOS). The nNOS was shown to play critical roles in a variety of muscle functions and alterations of its expression … [Read more]

Evaluation of children with SMA type 1 under treatment with nusinersen

Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of spinal muscular atrophy (SMA). Prior to approval, it was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the … [Read more]

Safety and efficacy of the Vacora® vacuum-assisted biopsy system

Muscle sampling via percutaneous biopsy has been shown to be safe and effective using a Bergström needle; however, the use of a single-operator, self-contained, vacuum-assisted biopsy technique has not been explored. Here, the authors performed a retrospective chart review of muscle biopsy samples obtained using the Vacora® self-contained vacuum-assisted biopsy system between 2013 and 2016, … [Read more]