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1385 news items
Research
Publication of the results of the PLEO-CMT trial evaluating the PXT3003 in CMT1A
On 14/12/2021
• PXT3003 is a low dose combination of baclofen, naltrexone and sorbitol which is believed to act synergistically to inhibit the excessive expression of PMP22…
Research
Mechanisms and future treatments for myasthenia gravis debated at International Society of Neuroimmunology (ISNI) congress
On 14/12/2021
Supported by AFM-Telethon, the 15th edition of the International Society of Neuro-immunology congress was held online from November 8 to 12, 2021. It was co-chaired…
Research
Autoimmune neurological complications after Covid-19 vaccination remain exceptional
On 13/12/2021
German specialists have identified 21 autoimmune neurological complications in their respective canton that occurred between March 1 and June 1, 2021 after Covid-19 vaccination in…
Research
Early muscle damage in Glycogenosis type IIIa
On 09/12/2021
Glycogenosis type IIIa is a deficiency in a debranching enzyme. It initially results in hepatic disorders but can classically lead to muscle disorders and increased…
Research
Continuous non-invasive ventilation may be an alternative to tracheostomy ventilation
On 08/12/2021
A significant number of neuromuscular patients with severe respiratory impairment are ventilated invasively, most often by means of a tracheostomy. An international study compiled data…
Research
Italian observation confirms the involvement of the p.S85C variant in distal myopathy linked to the MATR3 gene
On 07/12/2021
Distal myopathy with vocal cord palsy (or VCPDM) has only been described in twelve families around the world, including one in France. VCPDM belongs to…
Research
Images suggesting normal pressure hydrocephalus are frequently found in DM1
On 06/12/2021
Japanese researchers analyzed brain MRI scans of 112 patients with DM1 and compared them to 50 brain MRI scans of controls. From the study of…
Research
A more severe subtype of antisynthetase syndrome
On 02/12/2021
Antisynthetase syndrome is part of the inflammatory myopathies (or myositis) known as “overlapping”. Chinese clinicians retrospectively studied a cohort of 113 adults with this form…
Research
A specific metabolic profile probably useful as a biomarker in SMA
On 02/12/2021
Whether it is to specify the different categories of SMA or to monitor the progress of treated patients, there is still a lack of biomarkers.…
Research
The institute’s teams present at the ‘Journées de la Société Française de Myologie’
On 23/11/2021
The 18th ‘Journées de la Société Française de Myologie’ will be held from November 24 to 26, 2021 in Saint-Etienne, France. This meeting is a…
Research
An axonal form of CMT is clinically similar to SMA
On 22/11/2021
European researchers have identified thirty individuals with a rare form of axonal CMT disease with mutations in the NEFH gene, coding a neurofilament (CMT type…
Research
A recurrent mutation of the RYR1 gene is responsible for a congenital form of myopathy with benign progression
On 22/11/2021
Although the usual mode of presentation of RYR1-related myopathies is that of congenital myopathy, the range of phenotypes related to pathogenic variants of this gene…
Research
LAMA2-related CMD: full body MRI of 27 patients shows consistent topography of brain and muscle impairments
On 22/11/2021
Based on an analysis of images obtained from full body magnetic resonance imaging (MRI) of 27 patients with LAMA2-related congenital muscular dystrophy (CMD), aged 2…
Research
SMA type 1: the results of the STR1VE-EU trial confirm the efficacy of Zolgensma
On 19/11/2021
The STR1VE-EU trial evaluated the safety and efficacy of a single intravenous infusion of Zolgensma (onasemnogene abeparvovec) in 33 infants with SMN1-related proximal spinal muscular…
Research
Japanese guidelines for the diagnosis and treatment of interstitial lung disease accompanying certain systemic diseases
On 19/11/2021
The occurrence of interstitial lung disease in the progression of a systemic disease (also known by the term “connectivitis”) is a complication that is feared…
Research
The STRIDE follow-up registry and a retrospective Swedish study provide new data regarding the effects of ataluren in DMD at over 5 years
On 18/11/2021
• Ataluren, a medicine that targets DMD gene stop codon-type abnormalities, approved in Europe in Duchenne muscular dystrophy, is the subject of new results with…
Research
An indwelling intrathecal catheter used experimentally in the US for nusinersen injections in SMA
On 18/11/2021
The intrathecal administration of nusinersen (Spinraza) can prove problematic in patients with SMN1 gene-related proximal spinal muscular atrophy (SMA) due to spinal deformation that is…
Research
Muscular dystrophy: the challenges of cell transplantation
On 17/11/2021
Cell transplantation has been considered a possible treatment strategy for muscular dystrophy for decades, yet there have been more failures than successes, if not encouraging…
Research
Eteplirsen acts long-term on respiratory function and walking in DMD
On 17/11/2021
• A prospective and retrospective analysis of the effects of eteplirsen has been conducted over a total period of 7 years, via 3 successive clinical…
Research
The plectinopathies: a wide range of neuromuscular and non-neuromuscular phenotypes
On 16/11/2021
Plectin is a large protein that stabilises the position of intermediate filaments inside the cell. An Austrian team has reviewed this protein’s involvement in the…