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1385 news items
Research
A natural history of TRPV4-related hereditary neuropathies
On 04/09/2024
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…
Research
DM1: Setting up a cognitive remediation group – Interview with Sabrina Sayah and Thibaud Guillopé
On 03/09/2024
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…
Research
A higher incidence of AINM in the New Zealand population of Polynesian origin
On 03/09/2024
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…
Research
Congenital myopathy linked to the STAC3 gene is a frequent cause of early hypotonia in South Africa
On 03/09/2024
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…
Research
Differential circulating microRNA profiles in several subtypes of inflammatory myopathies
On 02/09/2024
Italian researchers have studied extra-cellular vesicles (EVs) present in the bloodstream and containing several types of very small messenger RNA: in particular, microRNAs (miRNAs) and…
Research
What is the relevant level of motor function change in DMD?
On 02/09/2024
Given the relative failure of a certain number of therapeutic trials, an international consortium of specialists in Duchenne muscular dystrophy (DMD), in collaboration with the…
Research
Prenatal exposure to the AAV9 adeno-associated virus carries some risk
On 02/09/2024
American researchers wanted to find out whether exposing a foetus to AAV9 during pregnancy could be envisaged: in vivo experiments were carried out on lamb…
Research
Congenital hallux valgus also occurs in BMPR1B-related dysplasias
On 30/08/2024
The mother of a three-month-old girl with bilateral congenital hallux valgus, informed via the internet and social networks of the possibility that her daughter had…
Research
Gene therapy and SMA: an update of European recommendations
On 30/08/2024
A consortium of European experts has reviewed, four years apart, the use of AAV-based gene therapy in SMA: real-life data and feedback from neonatal diagnosis…
Research
Is taxomifene useful for preserving cardiac function in DMD?
On 29/08/2024
The investigators of the TAMDMD trial, designed to study the possible beneficial effects of tamoxifen in Duchenne muscular dystrophy (DMD), have carried out a post-hoc…
Research
Urinary problems, to be investigated regularly in NMDs
On 29/08/2024
Two recent publications highlight the high frequency of lower urinary tract symptoms in various neuromuscular diseases and their major impact on daily life. The first…
Research
Towards a deeper understanding of the characteristics of the oculomotor muscles
On 29/08/2024
Differences in embryological origin, regenerative potential and susceptibility to muscular diseases exist between the skeletal muscles of the head and those of the trunk and…
Research
Improving assessment of the risk of DMD and BMD recurrence in the case of a de novo mutation
On 28/08/2024
One third of the variants involved in Duchenne and Becker muscular dystrophies (BDMD) are de novo mutations. Knowing that these diseases are predisposed to germline…
Research
Cognitive problems are common in children with SMA, even if they are treated early on
On 28/08/2024
German clinicians looked at the frequency of cognitive impairment in a cohort of children with SMN1-related spinal muscular atrophy (SMA) type 1 who had received…
Research
An overview of DYNC1H1-related dyneinopathies
On 28/08/2024
An international multicentre study reports on the clinical, molecular and imaging variety of 47 individuals from 43 families with a mutation in the DYNC1H1 gene.…
Research
The neuropsychological profile may also be modulated by the environment in DM1
On 28/08/2024
The neuropsychological assessment and brain MRI of two young women, monozygotic twins aged 29 with Steinert disease, showed slight differences: although they both have normal…
Research
Appropriate use of mexiletine in myotonic dystrophy: a consensus in France
On 27/08/2024
Experts in Steinert disease (DM1) have just produced recommendations concerning the use of mexiletine, a class I anti-arrhythmic agent which may improve the lack of…
Research
Data on quality of life in hypokalaemic periodic paralysis
On 27/08/2024
Forty-nine patients with hypokalaemic periodic paralysis linked to CACNA1S completed a quality of life questionnaire (INQoL). The symptoms with the greatest impact on their quality…
Research
SMA: chronic pain is common, particularly in adolescence
On 27/08/2024
Analysis of data from the Swiss neuromuscular disease register relating to 141 patients with SMN1-related proximal spinal muscular atrophy (SMA) shows that : 28 had…
Research
3,4-diaminopyridine may improve VAMP1-related congenital myasthenic syndromes
On 26/08/2024
In 2017, mutations in VAMP1 were implicated in a congenital presynaptic myasthenic syndrome. Since then, nine autosomal recessive cases with hypotonia, facial weakness, fatigability, bulbar…