Myology research highlights

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Patient-reported symptoms in FSHD

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]

Genetics of idiopathic inflammatory myopathies: insights into disease pathogenesis

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]

Longitudinal reliability of outcome measures in patients with DMD

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]

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy

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]

KBTBD13 is an actin-binding protein that modulates muscle kinetics

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]

Novel phenotypes and cardiac involvement associated with DNA2 genetic variants

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]

Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

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]

Creation of the Department of Neuromyology, headed by Bertrand Fontaine at the Salpêtrière hospital

For the first time, a hospital department has been dedicated to the field of Neuromyology in a facility that allows teaching hospital activities to be conducted, recognising the specificity of the nerve-muscle combination. A complete facility dedicated to this field has been created, centred around the patient and involving a clearly defined project aimed at … [Read more]

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries the challenge was: to improve standardization and data comparability; to facilitate interoperability between existing RD registries; to limit the … [Read more]

McArdle disease : efficacy of gene therapy in the model mouse

McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase gene (PYGM) leading to absence of PYGM enzyme in skeletal muscle and preventing access to … [Read more]