Blog Archives
A probable founder effect in a hereditary neuropathy with cyclic vomiting
French clinicians and biologists report the observations of three families of North African origin who were diagnosed with deficiency of SMVT, a sodium-dependent multi-vitamin transporter: the clinical picture was one of severe axon-demyelinating neuropathy, appearing early (in childhood) and often complicated by optic atrophy, and recurrent episodes of incoercible vomiting, suggesting dysautonomia, High-throughput sequencing in … [Read more]
GDF5, a “rejuvenating” treatment for age-related neuromuscular deficiency in mice
A study conducted by the MOOVE* research team headed by France Pietri-Rouxel, in collaboration with several teams from the Institute and Sorbonne University, has just been published in Brain**. It focuses on the effects of chronic administration of a factor, GDF5, on age-related neuromuscular deficiency (sarcopenia) in mice. Sarcopenia is an age-related disease involving excessive … [Read more]
Researchers from the institute at the IDMC14 conference to present their work
Researchers and clinicians from the Institute of Myology will be present at the 14th International Myotonic Dystrophy Consortium Meeting (IDMC14) which takes place from 9 to 13 April 2024 in Nijmegen, the Netherlands. They will be taking part as session chairs or presenting their work: Wednesday 10 April 8:30-10:00 – Session 1a: Pathogenic Mechanisms I … [Read more]
Clinicians and researchers from the Institute at the Journées de neurologie de langue française
The Journées de neurologie de langue française will be held in Paris from 9 to 12 April 2024. The main aim of these days is to promote and develop neurology in France and other French-speaking countries. The aim is also to encourage exchanges between the various societies and associations concerned with the nervous system. Experts … [Read more]
Atamyo Therapeutics obtains authorisation to launch a gene therapy clinical trial in limb-girdle muscular dystrophy linked to SGCG
Following several proofs of concept, Atamyo Therapeutics, a spin-off from Geenethon, has obtained authorisation to start a new gene therapy trial in patients suffering from limb-girdle muscular dystrophy (LGMD) R5 linked to SGCG (gamma-sarcoglycanopathy). Its aim is to test the safety, pharmacodynamics and efficacy of ATA-200, a product resulting from the work of Isabelle Richard, … [Read more]
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]
