Myology research highlights
RSS feedA Chinese study on the natural history of paediatric LAMA2 muscular dystrophy
A Chinese multicentre study (covering 9 regions) describes the clinical course and phenotype-genotype correlations of a cohort of children with LAMA2 muscular dystrophy, 116 congenital forms with a median age of 6.4 years (0.3 to 27.3 years) at the last visit, 14 girdle forms (LGMDR23) with a median age of 8.2 years (3.2 to 27 years) at the last visit. The … [Read more]
Study of the day-to-day life impact of autoimmune myasthenia gravis from the patient’s point of view
Myasthenia gravis (MG) is a rare, chronic disease mediated by immunoglobulin G antibodies that causes crippling muscle weakness. As with most rare diseases, there is little self-reported data to understand and meet their needs. This study explores the impact of MG on the day-to-day lives of patients. This prospective, observational, digital longitudinal study, lasting 2 … [Read more]
Analysis of high-throughput digital images reveals distinct patterns of dystrophin expression in patients with dystrophinopathy
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys while Becker’s muscular dystrophy (BMD), a milder and less progressive allelic variant, is much rarer. Both are recessive diseases linked to the X chromosome with, in one case, a complete absence of dystrophin (DMD) and in the other, a partial deficiency of dystrophin … [Read more]
Sexual dysfunction more common in myasthenia gravis
Sexual dysfunction includes problems related to sexual activity: libido, stimulation, painful intercourse, reduced satisfaction and orgasmic disorders, etc. A Chinese observational study evaluated the frequency of these disorders in 319 participants, including 158 patients with myasthenia gravis (52 males and 106 females), and 161 unaffected controls, mean age 41.82 ± 10.44 years. The participants were asked to complete questionnaires, on … [Read more]
Development of an animal model for BIN1-linked centronuclear myopathy provides proof of concept for the efficacy of an antisense oligonucleotide targeting DNM2
The team from the Institute of Genetics and Molecular and Cellular Biology (Strasbourg) has developed a viable mouse model of centronuclear myopathy, defective of the BIN1 gene selectively in muscles. BIN1 encodes amphiphysin 2, a protein that controls the curvature of membranes. Dynamin 2 is an effector protein of amphiphysin 2, encoded by DNM2. Injection … [Read more]
The prevalence of non-hereditary rod-shaped myopathy in adults is arguably underestimated
The nemaline-myopathies are well known to pediatricians because of a revelation most often neonatal or in the first months of life. However, it is also found in adults, who suffer from a non-hereditary form with late onset. This form is referred to by the acronym SLONM (for Sporadic Late Onset Nemaline Myopathy). It results in … [Read more]
Myasthenia gravis, a very often painful disease
Myasthenia gravis is not known to usually cause pain. However, 70% of patients feel it according to a study of 108 people followed for stable myasthenia gravis at the Raymond-Poincaré Hospital in Garches and presented at the Neuromuscular Days in Marseille, France, in September 2021. These pains are mainly muscular, axial and triggered by movement, … [Read more]
Fatigue and sedentary lifestyle go hand in hand in myasthenia gravis
Patients with myasthenia gravis often complain of a feeling of fatigue, sometimes severe and resistant at rest. A study based on self-administered questionnaires answered by 779 adults with myasthenia gravis shows that their fatigue (assessed by the MFI-20 score) is more often “general” or “physical” and that its level turns out to be inversely correlated … [Read more]
A new mutation in one of the components of the complex IV of the respiratory chain responsible for MELAS syndrome
MELAS syndrome is one of the mitochondrial diseases described mainly in adults. As its acronym suggests, it combines myopathy (M), encephalopathy (E), lactic acidosis (LA) and pseudo-stroke (S). To this complex and protean picture can be added cardiac complications of various types (abnormalities of myocardial contractility, conduction disorders, etc.). MELAS syndrome is transmitted by maternal … [Read more]
STEER: a trial of intrathecal Zolgensma in preparation in type II SMA
Zolgensma (onasemnogene abeparvovec) is the first approved gene therapy treatment in SMA via intravenous administration. A new trial of the intrathecal administration gene therapy product is planned in over 100 participants with type II SMA, treatment-naïve and aged 2 to 18 years, able to sit up but having never walked. This randomized, double-blind, phase III … [Read more]
