Blog Archives
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]
A study by the Institute of Myology has enhanced the phenotypic spectrum due to PLEKHG5 gene mutations
In clinical practice, it is not always easy to distinguish between hereditary motor and sensory neuropathy (the prime example being Charcot-Marie-Tooth disease or CMT) and disorders of the lower motor neuron (referenced under different terms such as distal spinal muscular atrophy, distal motor neuronopathy, etc.). Both clinical and electrophysiological assessment of the sensory component can … [Read more]
First prospective study of tofacitinib in refractory dermatomyositis shows encouraging results
Dermatomyositis is an inflammatory autoimmune disease that affects the skin and muscles, with vasculopathy. Like a genetic interferonopathy, it is accompanied by an overexpression of genes dependent on type 1 interferon, which activates the janus kinase signaling pathway – signal transducers and activators of transcription (JAK- STAT). In 2018, researchers from the Institute of Myology helped … [Read more]
Myasthenia gravis: immunoglobulins as maintenance therapy?
Polyvalent immunoglobulins (Ig) have been shown to be effective in treating exacerbations of myasthenia gravis (myasthenic seizure). The results of two retrospective studies, published in 2021, testify to their interest also in background regimen. Effective enough to lighten the rest of the prescription The first study, Canadian, involved 34 patients with generalized myasthenia gravis … [Read more]
WMS 2021: Clinicians and researchers from the Institute mobilized for this new edition
From September 20 to 24, the 26th International Congress of the World Muscle Society (WMS), bringing together muscle experts from around the world, will highlight the work of numerous researchers and clinicians from the Institute of Myology. From basic research, through clinical trials, to therapeutic advances, no less than 32 communications (3 oral presentations and … [Read more]
Point mutations in the PABPN1 gene in OPMD are no longer the domain of Europe
Oculopharyngeal muscular dystrophy (OPMD) is a muscular disease of very late onset, most often after the age of fifty, and which mainly results in slowly progressive damage to the muscles of the eyelids, face, pharynx and pelvic girdle. Inherited in an autosomal dominant mode, it is found on all continents with several clusters identified in … [Read more]
A Chinese contribution to the debate on neonatal screening methods in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is one of the most common neuromuscular disorders. In children, it causes progressive muscular deficit with cardiorespiratory complications leading to premature death. Screening at birth is often a topical issue, particularly due to the increasing number of advanced therapies (based on antisense oligonucleotides or gene therapy products) starting to emerge. The … [Read more]
