Myology research highlights

• The retrospective study involves 72 participants (34 men and 38 women) with LGMD R1 (calpainopathy). • Patients have the following characteristics: the disease manifests between one and 35 years, on average around 13 years, nearly 40% of the participants had manifestations before the age of 12, 49% between the ages of 12 and 20, … [Read more]

In two decades, the Center for Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD or FSH) in China (Fujian Neuromedical Centre) has collected and followed data from 997 patients with this myopathy and from 620 families. Their analysis shows that: on average, the number of D4Z4 repeat units is 5 (1 to 9 depending on the … [Read more]

The team from the London Neuromuscular Center studied the evolution of oral food intake capacities measured by the Pediatric Functional Oral Intake Scale (p-FOIS), in 24 children with spinal muscular atrophy linked to SMN1 ( SMA) type 1, on nusinersen for 2 years, from a median age of 11 months (1 month to 7.5 years). … [Read more]

For the first time, and thanks to a family with several affected people, Canadian and Finnish researchers have provided evidence of the involvement of mitochondrial DNA in a scapulo-peroneal syndrome: the initial diagnosis was that of an atypical Charcot-Marie-Tooth disease without molecular signature, an exhaustive high-throughput sequencing (NGS) study had previously eliminated any anomaly in … [Read more]

Distinct mutations of the SMCHD1 gene are responsible for a form of facioscapulohumeral myopathy (FSH type 2) but also for an ultra-rare syndrome comprising abnormalities of the olfactory system such as arhinia, nasal hypoplasia or anosmia. American researchers collected clinical and genetic data from eleven patients with the latter syndrome: only three had a genotype … [Read more]

• Korean researchers studied the effects of farnesol in Charcot-Marie-Tooth disease type 1A (CMT1A): • They showed that the molecule enhances myelination of axons by Schwann cells: in a cellular model of CMT1A, it promotes the expression of myelin genes. in a mouse model of CMT1A, it increases the number and diameter of myelinated axons as … [Read more]

On the initiative and with the support of the patient association concerned (Cure VCP Disease), a group of American experts worked on the development of recommendations for the diagnosis and management of people with abnormalities of the VCP gene: this gene is responsible for a clinical picture classically associating inclusion body myopathy, Paget’s disease and … [Read more]

COVID-19 has caused millions of deaths primarily caused by an inappropriate systemic inflammatory response to SARS-CoV-2 and progression to refractory hypoxemia, leading to acute respiratory distress syndrome. Cardiac lesions, including increased biomarkers, pulmonary embolism, and impaired ventricular function on echocardiography have also been associated with increased mortality. Furthermore, SARS-CoV-2 uses the receptor for angiotensin-converting enzyme … [Read more]

Amyotrophic lateral sclerosis (ALS) is characterized by motor neuron (MN) degeneration leading to its death. While the cause of MN death is unknown, one hypothesis is that its cellular environment may play a key role in its survival. However, in ALS, circulating extracellular vesicles that can transport toxic elements to the astrocytes are observed, and … [Read more]

Autoimmune disorders of the neuromuscular junction (NMJ) are characterized in particular by fatigue and muscle weakness. While there are many immunosuppressive treatments, there is no cure for these disorders and patients must live with crippling muscle weakness. The pathophysiology of these autoimmune diseases has made great progress thanks to: recent advances in understanding the structure … [Read more]