Blog Archives
DMD: a gene therapy strategy more effective than microdystrophin in mdx mice
Within a month of each other, a German-American and a Chinese-American team published the proof of concept of a gene therapy strategy leading to the expression of a full-length dystrophin in the skeletal and cardiac muscle of mdx mice. This method is based on intelin-mediated protein trans-splicing. It uses triple administration via a highly muscle-tropic … [Read more]
A case of myositis following gene therapy for DMD
American clinicians involved in gene therapy designed to deliver a truncated version of the dystrophin gene (microdystrophin) by vein, using an adeno-associated virus, have reported a complication that was already known but rarely encountered: the patient was 9 years old and still able to walk at the time of gene therapy (GT), his genotype corresponded … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Heart transplants and muscular dystrophies: reticence shattered
A review of the literature on the 275 heart transplants performed for muscular dystrophies up to July 2023 shows that : these operations involved 116 patients with Becker’s myopathy (BMD) and 102 with laminopathy, but also 17 patients with limb-girdle muscular dystrophy (LGMD), 12 with Steinert’s myotonic dystrophy (DM1), 11 with Duchenne muscular dystrophy (DMD), … [Read more]
Our 2023 Annual Report is online
In 2023, the Institute continued its dynamic transformation and the deployment of its strategy to support research and innovation. It was also a key year for the emergence of muscle as a public health issue. We all share the same ambition: to support patients throughout their care pathway and to develop strong synergies to bridge … [Read more]
The Danish MuskelsVindfonden association visits the Institute
On Friday 31 August, 56 people from the Danish association MuskelsVindfonden, the Danish equivalent of AFM-Téléthon, visited the Institute of Myology. They were welcomed by Olivier Stephan and Valérie Decostre and were able to visit a laboratory. This Danish delegation from the MuskelsVindfonden association, made up of employees and volunteers from the association, was in … [Read more]
DM1: Setting up a cognitive remediation group – Interview with Sabrina Sayah and Thibaud Guillopé
Sabrina Sayah and Thibaud Guillopé are clinical psychologists specialising in neuropsychology in the Psychology and Neuropsychology team at the Institute of Myology. They presented their clinical work at the Neuroscience DMU Day held at the ICM on 22 June. Their poster having been selected, T. Guillopé was able to give an oral presentation of the … [Read more]
Congenital myopathy linked to the STAC3 gene is a frequent cause of early hypotonia in South Africa
South African researchers report the clinical and biological data from a cohort of 127 young children with congenital hypotonia: they had been previously excluded for SMA and Prader-Willi syndrome, the homozygous variant identified in STAC3 by high-throughput DNA sequencing in 31 children is the same as that found in patients from Africa, additional haplotyping studies … [Read more]
A higher incidence of AINM in the New Zealand population of Polynesian origin
Clinicians report a large and growing number of cases of autoimmune necrotising myopathy (AINM) in New Zealand: 40 new cases of HMGCR autoantibody-positive AINM were diagnosed over a two-year period (2019-2021), all were in people aged over 40 who had been exposed to cholesterol-lowering statins, the calculated incidence was found to be five times higher … [Read more]
Advances in Charcot-Marie-Tooth disease – June 2024
Charcot-Marie-Tooth disease is a group of genetic diseases that cause damage to the peripheral nerves (nerves that connect the spinal cord to muscles and sensory organs) of the arms and legs (neuropathy). It is also known as hereditary motor and sensory neuropathy (HMSN). Common symptoms are muscle weakness and wasting in the legs (feet and … [Read more]
