Blog Archives
Prenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
A team from Dijon reports on a complex situation involving a consanguineous couple whose foetus carried adevelopmental anomaly known as cystic hygroma: a whole exome trio (WES-Trio) study was carried out prenatally to determine the origin, a homozygous truncating variant of the ASCC1 gene was identified, known to give a very rare form of spinal … [Read more]
An ultra-rare myopathy, but important to recognise because it can be treated
Clinicians in London report the observation of a 27-year-old patient diagnosed with arginine-glycine amidino-transferase (AGAT) deficiency myopathy: the clinical picture combined myopathy and cognitive difficulties dating back to childhood, in a patient with no family history but with known parental consanguinity; She was short in stature and also had ptosis and a discrete facial dysmorphia, … [Read more]
Failure of the ryanodine receptor causes myocardial senescence and fibrosis in DMD
Researchers in the south of France have studied the determinants of the degeneration and fibrosis observed in cardiomyopathy linked to Duchenne muscular dystrophy (DMD) in animals and humans: human pluripotent stem cells from DMD patients were first transformed into cardiomyocytes, myocardial tissue from DMD model dogs (GRMD) was also analysed, dysfunction of the type 2 … [Read more]
A new method for assessing treatment efficacy in Pompe disease
To assess the efficacy of enzyme replacement therapy, Dutch researchers and clinicians are proposing a new methodology: the clinical and paraclinical data of 102 patients with Pompe’s disease who had been receiving enzyme replacement therapy for a year were retrospectively analysed, an index, MCID (for minimal clinically important difference), described as the minimal difference producing … [Read more]
Neonatal screening for Pompe disease: a compilation of all existing data
Two American researchers have compiled data from the literature on newborn screening for Pompe disease worldwide: 29 programmes are in place and operational in eight different countries, including the United States and Taiwan, more than 11.6 million newborns have been screened to date, the incidence is 1 case in 18,711 births (i.e. 5.3 cases per … [Read more]
Experts from the institute will present their research findings at Myology 2024
Researchers and clinicians from the Institute of Myology will be presenting their findings at the next international myology congress, Myology 2024, organized by AFM-Téléthon from April 22 to 25. Over 70 international speakers will take the floor in 23 plenary and parallel sessions and 7 industry symposia, and more than 400 scientific posters will be … [Read more]
Natural history of X-linked myopathy with excessive autophagy
X-linked myopathy with excessive autophagy (XMEA) is a little-known disease linked to the VMA21 gene. It leads to autophagy failure with progressive vacuolation and atrophy of skeletal muscles. The aim of this retrospective study, conducted by French teams including researchers and clinicians from the Institut de Myologie, was to define the clinical, radiological and natural … [Read more]
TOPAZ trial of apitegromab in SMA
The TOPAZ trial tested the safety, tolerability and efficacy of the anti-myostatin apitegromab in SMA over one year in the United States and Europe (but not in France). The 58 participants, aged between 2 and 21 years, received apitegromab intravenously every 4 weeks for one year. The first cohort (open-label) included 23 participants with type … [Read more]
Charcot-Marie-Tooth disease: one in two orthotic devices prescribed is no longer used over time
An online survey of 266 Italian patients suffering from Charcot–Marie–Tooth (CMT) disease shows the low use of lower–limb orthoses: 70% of participants had received a prescription, 59% said they had experienced complications (discomfort, pain) related to the orthosis, 19% did not wear their orthoses, 31% eventually abandoned them. A French survey also showed that only … [Read more]
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply rooted in the multi-omics field of modern biological research, can help us to better understand the molecular pathogenesis of complex diseases. Duchenne muscular dystrophy is an example of a monogenetic … [Read more]
