Myology research highlights

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]

Emery-Dreifuss muscular dystrophy is characterised by skeletal muscle loss and weakness, associated with dilated cardiomyopathy and cardiac conduction disorders. Although the genetic cause of this disorder has been known since the 1990s(1,2), the molecular and cellular mechanisms behind loss of strength in these patients remain unclear.  We recently showed that abnormal activation of the ERK1/2 … [Read more]

Hereditary neuromuscular diseases are a common cause of persistent hyperCKemia. Duchenne and Becker muscular dystrophies (DMD, DMB), linked to mutations in the DMD gene, are the most common in boys. They can also affect girls, but the proportion of carriers of DMD gene abnormalities that are symptomatic (skeletal muscle and / or heart) remains unclear.  … [Read more]

Myasthenia gravis is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. Characterized by a varianility of the resulting muscle impairment and by the presence of a synaptic block on the electromyogram, this non-hereditary neuromuscular disease can get significantly worse with certain … [Read more]

A genetic analysis carried out in 250 people with Steinert’s disease (DM1) and who participated in the OPTIMISTIC study showed that 21 of them had variant triplets (CCG or CGG most often) interrupting the repeats of CTG triplets of the DMPK gene, involved in DM1.  This phenomenon is associated with a lower severity of the … [Read more]