Blog Archives
Retinal anomalies in inflammatory myopathies are frequent and should not be overlooked
Indian and British researchers studied these phenomena by subjecting the patient cohort named MyoCite to a battery of ophthalmological tests. 43 adults with inflammatory myopathy, mainly dermatomyositis, were included in the study, Retinal abnormalities (vessel pallor, accentuated tortuosity, etc.) were noted in almost half of the patients, regardless of the type of myositis. They were … [Read more]
ERN EURO-NMD webinar, Feb. 16th – Stéphane Vassilopoulos (France)
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation 16 February 2023 – 16:00 Paris time Stéphane Vassilopoulos (Myology Centre for Research, Institute of Myology, France) Inscription : https://zoom.us/webinar/register/WN_CyiBCczsR62CeUudv278SA Organised by EURO-NMD in collaboration with ERN-RND (rare neurological disorders) and European Academy of Neurology.
Constipation in SMA type I can be controlled with the right diet
British clinicians conducted a clinical trial of a diet rich in amino acids and probiotics in 14 children with type I spinal muscular atrophy. To participate, the children had to be tube fed for at least 90% of their energy intake and have gastrointestinal disorders: the median age of the participants in this open study … [Read more]
Beneficial effects of tamoxifen on muscle strength in mouse models of centronuclear myopathies
A team from Strasbourg, supported by the AFM-Telethon, has studied the repositioning of tamoxifen in centronuclear myopathy (CNM), a drug which has already shown its efficacy in the animal model of myotubular myopathy or Duchenne muscular dystrophy. The investigators studied the effects of five weeks of tamoxifen administration in two three-week-old mouse models: one of … [Read more]
Cases of inflammatory myopathy with coexisting myositis-specific antibodies
Researchers in Taiwan have focused on the rare cases of inflammatory myopathy in which the myositis specific autoantibody (MSA) assay was positive in at least two of them: out of 151 myositis patients enrolled in the period 2018-2022 at Taipei Hospital, 23 (15%) were initially in this situation, further serological studies reduced this number to … [Read more]
Nusinersen has differentiated neurometabolic effects depending on the severity of the SMA
An Italian-American consortium of researchers studied the cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA) treated with intrathecal injections of nusinersen (Spinraza®) in two Italian reference centres: 12 patients with SMA type I, 7 with SMA type II and 8 with SMA type III were included in this study, which consisted in analysing … [Read more]
Muscle, a major public health issue
Because muscles are a major public health issue, AFM-Telethon and the Institute of Myology, an international center of expertise on muscles and their diseases, are carrying out a project for a Myology Foundation. In addition, to raise awareness on myology among the public, they are launching two events dedicated to this public health issue in … [Read more]
First « Muscle Conferences » on 1 June at the Economic, Social and Environmental Council
The Institute of Myology and AFM-Telethon organised a press conference on 7 February to promote muscle as a public health issue by announcing the project to create a Foundation of Myology and two dedicated events to raise awareness of this issue: Muscle Week and the “First « Muscle Conferences » on 1 June at the Economic, Social and … [Read more]
Standards now available for muscle fibre size and type during growth
The evolution of muscle fibre morphometry during growth is poorly understood. French researchers and engineers involving scientists from the Institute of Myology have used a new image analysis algorithm (Carpaccio.Cloud) to better measure the evolution of several quantitative parameters over time: 482 images, corresponding to 83 biopsied deltoid muscles and representing a total of 33,094 … [Read more]
How to reconcile vaccination schedule and gene therapy in infants with SMA?
Gene therapy has become a treatment option for many infants with severe forms of spinal muscular atrophy (SMA) and tomorrow for those diagnosed at a presymptomatic stage through newborn screening. Polish researchers have been looking at the practical consequences of such a therapeutic approach on how to vaccinate these children. There are no international recommendations … [Read more]
