Blog Archives
Towards a better understanding of genotype/phenotype correlations in DMD
American clinicians studied a large cohort of children followed at the only neuromuscular consultation in Cincinnati (USA) for Duchenne muscular dystrophy (DMD): 555 patients were included in the study, All were receiving long-term corticosteroid therapy (at least 12 months), but without any associated innovative therapy, age at loss of walking was chosen as the main … [Read more]
A case of immune-mediated necrotizing myopathy mimicking FSHD
Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD): the patient suffered from a progressive asymmetric muscle deficit that had appeared three years previously, with associated facial weakness, treatment with statins had been started following a stroke which had resulted in paresis … [Read more]
Characterisation of distal digenic myopathy linked to TIA1 and SQSTM1
The description of four new French cases of Welander-type distal myopathy and 20 cases from a review of the literature confirms the digenic nature of the disease: the p.Asn357Ser mutation in the TIA1 gene is associated with four different SQSTM1 variants. The disease is most often asymmetric and predominantly affects the foot lifters and finger … [Read more]
Improving diagnosis and prognosis in DM1 and other short repeat expansions diseases with LRS – Interview with Stéphanie Tomé
Stéphanie Tomé is a researcher in the Gourdon group within the Repeat Expansions & Myotonic Dystrophy (REDs) team at the Institute’s Center of Research in Myology. She organised the 2nd Long-Read Sequencing of Expanded Tandem repeats workshop, which was held in Paris from 30 September to 2 October 2024. During this workshop, European and North … [Read more]
Nerve imaging can help differentiate between acquired and inherited neuropathies
New Zealand researchers used ultrasound to measure the cross-sectional area of the sural and fibular nerves in order to differentiate between acquired and hereditary nerve pathologies: a control group of 34 healthy subjects was set up and compared with three other groups, one consisting of 17 patients with CANVAS syndrome (including ataxia and neuronopathy), the … [Read more]
Advances in congenital muscular dystrophies – June 2024
Apparent at birth or in the first few months of life, congenital muscular dystrophies (CMD) are a group of very diverse, rare diseases characterised by progressive muscle weakness in the trunk and limbs. They may also affect other organs such as the heart, brain and eyes. Common symptoms are muscle weakness with hypotonia causing impaired … [Read more]
M&M’s – Muscle Monday Seminar – 18 Nov. – Mani S. Mahadevan (USA)
Cellular and Molecular Drivers of Fibrosis in RNA Toxicity Monday 18 November 2024 – from 12 to 1 pm Prof. Mani S. Mahadevan (University of Virginia,USA) Hosted by Denis Furling More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr Zoom link : https://zoom.us/j/99899672100 Presential: Institute of … [Read more]
Targeted inhibition of ORAI1 reduces tubular aggregates in mice
Tubular aggregate myopathy may be due to overactivation of Store Operated Ca2+ Entry (SOCE) as a result of a gain-of-function variant in the STIM1 or ORAI1 genes. ORAI1 is a T-tubule membrane calcium channel that is activated by STIM1, a sarcoplasmic reticulum membrane protein that senses depletion of intracellular calcium stores. KO mice for ORAI1 … [Read more]
Changes in screening criteria for late-onset Pompe disease in China
An initial screening campaign for late-onset Pompe disease (LOPD) in China in 2022 showed, as a warning sign, a predominance of respiratory involvement and less frequent hyperCKaemia. A new campaign was carried out on 726 patients, with an average age of 37.6, including 96 children under 14: 51.1% presented with hyperCKaemia, 57.9% with limb-girdle muscular … [Read more]
A promising ex vivo gene therapy for Pompe disease
International researchers have developed a lentivirus-based gene therapy which they have tested in a mouse model of Pompe disease: the lentiviral vector is used to incorporate the drug gene into the host genome, in this case the mouse model of Pompe disease, The target tissue was haematopoietic stem cells, the efficacy in producing the enzyme … [Read more]
