Myology research highlights

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]

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]

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]

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]

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]

Sarcopenia is defined as a slowly progressive loss of diffuse muscle mass and strength with age. It is the visible part of genuine neuromuscular disease in almost 35% of people over 65 with muscle weakness or elevated CPKs. Type 2 myotonic dystrophy (DM2) and inclusion myositis (IBM) seem to be particularly frequent neuromuscular pathologies in … [Read more]

Exon 4 of the FKRP gene alone contains the entire coding sequence for the protein.  An American team has developed a CRISPR-Cas9 approach to replace the entire exon 4 in induced pluripotent cells of patients with muscular dystrophy linked to FKRP (Walker-Warburg syndrome, congenital muscular dystrophy, LGMD R9). This allowed the restoration of a functional … [Read more]

The role of the gut flora has received close attention in medical research, notably for immune disorders such as myasthenia gravis. Two publications on this subject emerged in the summer of 2021: the results of the German Mybiom study demonstrate, as regards myasthenia (n=42), a less diverse gut flora compared with the healthy control group … [Read more]

An Italian team carried out a systematic review of the literature on the subject of “epilepsy and muscular dystrophies linked to LAMA2”, the results are reported in an article published in July 2021.  The authors selected 20 studies involving 50 people with genetically confirmed LAMA2-related muscular dystrophy and presenting epileptic manifestations.  The average age of … [Read more]

A disorder affecting the neuromuscular junction, Efgartigimod reaches phase III in myasthenia gravis has benefited from relatively intensive therapeutic research for a rare disease, with more than 50 clinical trials in progress or in preparation registered on the ClinicalTrials site as of the end of July 2021. The therapeutic avenues studied include the promising class of … [Read more]