Blog Archives

The objective here was to study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study. A team of researchers from The Netherlands and … [Read more]

Deciphering the mechanisms that govern skeletal muscle plasticity is essential to understanding its pathophysiological processes, including age-related sarcopenia, which results in a progressive, generalized loss of muscle mass, strength, and quality. The consequences are numerous: increased risk of falls, length of stay in hospital, infectious risks … The CaV1.1 voltage-gated calcium channel plays a central … [Read more]

The purpose of the study was to determine the frequency and relative importance of the most meaningful symptoms in facioscapulohumeral muscular dystrophy (FSHD) and to identify the demographic and clinical features that are associated with the greatest disease burden in this population. The authors performed a cross-sectional study involving 328 participants with FSHD. Collectively, participants … [Read more]

The purpose of this study was to review the advances that have been made in our understanding of the genetics of idiopathic inflammatory myopathies (IIM) in the past 2 years, with a particular focus on dermatomyositis and polymyositis. Fine-mapping studies in the major histocompatibility complex region in Caucasian and Korean populations have identified novel human … [Read more]

The definition of reliable outcome measures is of increasing interest in patients with Duchenne muscular dystrophy (DMD). In this retrospective study, the authors analyzed the longitudinal reliability of clinical and radiological endpoints in 29 ambulant patients with DMD. Clinical outcome measures included motor function measure (MFM) and timed function tests, while quantitative MRI data were … [Read more]

Muscle-strengthening, stretching or proprioceptive treatments may slow symptom progression in Charcot-Marie-Tooth (CMT) neuropathy. The aim of the study was to evaluate safety and efficacy of treadmill training in CMT1A. The authors planned a multicenter, prospective, randomized, single-blind, controlled study. They recruited 53 outpatients affected by CMT1A and randomized them into two treatment groups: one underwent … [Read more]

The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6). In addition to weakness, NEM6 patients have slow muscle relaxation, compromising contractility and daily-life activities. The role of KBTBD13 in muscle … [Read more]

The aim of this study was to report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis. Mexican and French researchers, including clinicians from the Institute of Myology, performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 … [Read more]

The objective of this study was to identify the most responsive and sensitive clinical outcome measures in GNE myopathy. ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strength and functional tests included Myogrip, Myopinch, MoviPlate and Brooke assessments for … [Read more]