Blog Archives
A partial epidemiology of neuromuscular diseases in the Netherlands
Dutch researchers have carried out a major epidemiological study to determine the prevalence and incidence of the main neuromuscular diseases in their country: incidence was calculated using health data from two registers, one supplied by the network of neuromuscular reference centres (CRAMP register) and the other maintained by the Dutch neuromuscular patient association, using a … [Read more]
M&M’s – Muscle Monday Seminar – 25 Nov. – J. Andrew Berglund (USA)
Selective reduction of toxic RNAs rescue splicing dysregulation across repeat expansion diseases Monday 25 November 2024 – from 12 to 1 pm Prof. J. Andrew Berglund (University at Albany, 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 … [Read more]
A US working group on the challenges and safety of gene therapy for neuromuscular diseases
At the initiative of the Muscular Dystrophy Association (MDA), American experts have reviewed the successes and difficulties encountered with gene therapies mediated by adeno-associated viruses, for all neuromuscular diseases combined: this work brought together 47 clinicians and researchers, 41 representatives of the pharmaceutical industry involved in the field and 11 patient representatives, an exhaustive review … [Read more]
A study of the relationship between ambulation loss and the impact of corticosteroids on growth in DMD
The UK consortium dedicated to Duchenne muscular dystrophy (DMD) reports the results of a retrospective study designed to investigate a possible link between the side-effects of long-term steroid administration on weight and height curves and the age of loss of ambulation: the clinical and anthropometric data of 648 children with DMD selected from the UKNorth … [Read more]
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]
