Blog Archives
Gene therapy and SMA: an update of European recommendations
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 of SMA in many countries were taken into account in this update, 19 specialists from 17 European countries, including France, took part in the working group twelve proposals were discussed … [Read more]
Is taxomifene useful for preserving cardiac function in DMD?
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 analysis despite disappointing results concerning motor function: the trial involved 79 double-blind patients treated with oral tamoxifen, analysis of the echocardiographic data available for 14 of these patients (7 treated … [Read more]
Urinary problems, to be investigated regularly in NMDs
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 reports the results of a Turkish study of 45 boys aged between 5 and 18 suffering from Duchenne muscular dystrophy: urinary problems were present in 86.6% of them (strategies for … [Read more]
Towards a deeper understanding of the characteristics of the oculomotor muscles
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 limbs. In particular, the oculomotor muscles are not affected (or are only slightly affected) in Duchenne muscular dystrophy. They are also distinctive for the key role played by the Pitx2 … [Read more]
Improving assessment of the risk of DMD and BMD recurrence in the case of a de novo mutation
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 mosaicism, the team from the Department of Genomic Medicine for System and Organ Diseases at Hôpital Cochin (Paris) found, in their unpublished retrospective series of 332 BDMD families, a germline … [Read more]
Cognitive problems are common in children with SMA, even if they are treated early on
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 early treatment with one of the three innovative therapies available on the market: 20 children were included in the study, 19 of whom were symptomatic (up to 3 copies of … [Read more]
An overview of DYNC1H1-related dyneinopathies
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. This gene encodes the heavy chain of plasma dynein 1, which plays a central role in retrograde transport along neuronal axons. In addition to motor neuron damage, patients presented with … [Read more]
The neuropsychological profile may also be modulated by the environment in DM1
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 IQs, one has more difficulty with emotional functioning, while the second has difficulty with social cognition; the latter had grey matter atrophy in an additional area of the brain compared … [Read more]
Appropriate use of mexiletine in myotonic dystrophy: a consensus in France
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 muscle relaxation (myotonia): three neurologists and five cardiologists took part in the working group, data from the literature and experience gained from prescribing this drug off-label were taken into account, … [Read more]
ERN EURO-NMD webinar, 3 Sept. : Nawel Lalout (NL) & Dagmar Wandrei (DE)
The ERN EURO-NMD Registry Hub Project Tuesday 3 September 2024 – 16:00 Paris time Nawel Lalout (Radboudumc, NL) & Dagmar Wandrei (Medical Center – University of Freiburg, DE) > + infos Gene Therapy webinar series Organised by EURO-NMD in collaboration with ERN-RND.
