Myology research highlights

RSS feed

LDMG in the Netherlands: the clinical and molecular spectrum of 244 patients

In this retrospective study, Dutch researchers conducted a clinico‐genetic analysis of patients with autosomal recessive limb‐girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or … [Read more]

Gene delivery for LGMD2D by isolated limb infusion

In a previous limb-girdle muscular dystrophy type 2D (LGMD2D) clinical trial, robust alpha-sarcoglycan gene expression was confirmed following intramuscular gene (SGCA) transfer. This paved the way for first-in-human isolated limb infusion (ILI) gene transfer trial to the lower limbs. Delivery of scAAVrh74.tMCK .hSGCA via an intravascular route through the femoral artery predicted improved ambulation. This … [Read more]

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Several morphological phenotypes have been associated to RYR1-recessive myopathies. A team of Italian and French experts including clinicians and researchers from the Institute of Myology recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients, using histoenzymology, immunohistochemistry, and ultrastructural studies. … [Read more]

Eculizumab improves fatigue in refractory generalized myasthenia gravis

The aim of this study was to evaluate the effect of eculizumab on perceived fatigue in patients with anti-acetylcholine receptor antibody-positive, refractory, generalized myasthenia gravis (MG) using the Quality of Life in Neurological Disorders (Neuro-QOL) Fatigue subscale, and to evaluate correlations between improvements in Neuro-QOL Fatigue and other clinical endpoints. Neuro-QOL Fatigue, MG Activities of … [Read more]

Myositis is associated with coronary over-risk in two large studies

A Taiwanese alert… The authors conducted a retrospective cohort study using the Taiwan National Health Insurance Research Database containing records covering the years from 2000 to 2010. DM and PM were confined for the purposes of this study to those aged ⩾18 years who were eligible for the Taiwan catastrophic illness certificate. The diagnoses, coronary … [Read more]

Pattern of habitual physical exercise in Myasthenia gravis patients

Notwithstanding the amount of deliberate exercise, the daily patterns of active versus sedentary behavior have a major influence on health outcomes. Patterns of habitual active and sedentary behavior in Myasthenia Gravis (MG) patients, as well as their possible relations to disease activity, are not known. The objective of this study was to evaluate baseline patterns … [Read more]

Myasthenia gravis: the beneficial effect of thymectomy up to 5 years

The Thymectomy Trial in Non-Thymomatous Myasthenia Gravis Patients Receiving Prednisone (MGTX) showed that thymectomy combined with prednisone was superior to prednisone alone in improving clinical status as measured by the Quantitative Myasthenia Gravis (QMG) score in patients with generalised non-thymomatous myasthenia gravis at 3 years. The international consortium of investigators behind this first study investigated … [Read more]

Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure

Heart failure and restrictive respiratory insufficiency are complications in muscular dystrophies. Here, researchers from the Reference centre for neuromuscular disorders of Garches aimed to assess the accuracy of the B-natriuretic peptide (BNP) for the diagnosis of decompensated heart failure in muscular dystrophy. They included patients with muscular dystrophy and chronic respiratory insufficiency admitted in the … [Read more]

Spinal muscular atrophy with respiratory distress type 1: a multicenter retrospective study

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder characterized by progressive motor and respiratory decline during the first year of life. Early and late-onset cases have recently been reported, although not meeting the established diagnostic criteria, these cases have been genotyped. A group of French pediatricians thus … [Read more]

Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments

The objective of this study is to investigate the phenotypic features, with emphasis on muscle, in 40 patients with spinobulbar muscular atrophy (SBMA) using quantitative MRI, stationary dynamometry, questionnaires, and functional tests. Patients with genetically confirmed SBMA were included. MRI was used to describe muscle involvement and quantify muscle fat fractions of arm, back, and … [Read more]