Blog Archives
A fourth gene involved in a form of oculo-pharyngo-distal myopathy, OPDM type 4
Chinese researchers have identified a new gene responsible for an ultra-rare form of oculo-pharyngo-distal myopathy. It joins three other genes, LRP12, GIPC1 and NOTCH2NLC, which have in common that they are linked to the same pathological nucleotide expansion of the CGG type. The RILPL1 gene: was identified through the study, by sequencing of long fragments, … [Read more]
An ENMC workshop on anesthesia in NMD
No less than 28 researchers or clinicians (including three French) and two patient representatives from 15 countries participated in the 259th workshop of the European Neuromuscular Center (ENMC). They exchanged between December 2020 and May 2021 around three themes: anesthetic management in various neuromuscular diseases (myasthenia gravis, congenital muscular dystrophies, channelopathies, etc.), with a review … [Read more]
LGMD R1: a study reports clinical and genetic data in Indian patients and confirms the characteristics usually described
• 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]
One thousand patients were genetically diagnosed with FSH in China between 2001 and 2020
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]
SMA type 1: impairment of bulbar functions persists under nusinersen even though motor functions progress
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]
Myology 2022 and mitoNice 2022: programs are online!
You can now find the program of the two major scientific congresses organized by the AFM-Téléthon next September in Nice on the dedicated site: Myology 2022, which will be held from September 12 to 15, will bring together more than 900 international experts in muscle and its diseases while mitoNice 2022 gives mitochondria specialists an … [Read more]
Release of the 90th newsletter from the Institute – March 2022
Thanks to the mobilization of donors, volunteers, families, partners, all united during this great celebration of solidarity for the benefit of the fight against rare diseases, the final collection of the 2021 Telethon amounts to €85,933,166. To all, thank you! On December 3 and 4, 2021, the French once again attended the Telethon. Driven … [Read more]
Involvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome
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]
My thesis in 180 seconds: Louison Lallemant, 2022 Public prize winner – Interview
Louison Lallemant is a doctoral student in the group of Mario Gomes-Pereira and Geneviève Gourdon within the REDs team led by Denis Furling and Geneviève Gourdon, at the Institute’s Myology Centre for Research. She has just won the Public Prize awarded by Internet users and the public attending the Sorbonne University Final of the “My … [Read more]
Not all SMCHD1 gene variants give an FSH-compatible phenotype
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]
