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Research
Advances in the pathophysiology of myoglobinopathy
On 20/12/2021
Myoglobinopathy is an ultra-rare autosomal dominant neuromuscular disease first described in 2019 and caused by a His98Tyr mutation in the MB gene that encodes myoglobin.…
Research
The Myomex trial confirms the interest of the prescription of mexiletine in non-dystrophic myotonias
On 17/12/2021
The Myomex trial, conducted by the AP-HP (the Paris public hospital system) and supported by AFM-Téléthon, evaluated the efficacy and safety versus placebo of a…
Research
Norwegian study clarifies clinical profile of chronic forms of juvenile dermatomyositis
On 16/12/2021
Chronic forms of juvenile dermatomyositis (JDM) represent a therapeutic challenge. Norwegian clinicians studied a cohort of 59 patients with JDM which they compared to a…
Research
Muscle damage in women transmitting DMD / DMB more common than expected
On 16/12/2021
• A cross-sectional study of 53 women with pathological abnormalities of the DMD gene, leading to either DMD (33/53) or BMD (20/53) showed: signs of…
Research
Next-generation sequencing of mummified remains of 14th century Italian nobleman detects first known case of Pompe disease
On 16/12/2021
Science can sometimes solve historical puzzles, such as the one surrounding the death of Alberto Canfrancesco della Scala, Lord of Verona and protector of Dante.…
Research
A meta-analysis highlights the superiority of deflazacort in DMD
On 15/12/2021
Glucocorticoids are the standard treatment for Duchenne muscular dystrophy (DMD). There is no consensus on the type of steroid and the method of administration (doses,…
Research
Nusinersen in real life in the United States: a study highlights the difficulties of compliance
On 15/12/2021
Nusinersen is an antisense oligonucleotide that has been used in the treatment of SMA since 2016. Its method of administration (intrathecal) and the need for…
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…
Events
ERN EURO-NMD webinar, December 16th : Profs Tracey Willis & Derek Willis (UK)
On 09/12/2021
Palliative care in Neuromuscular Disorders Thursday December 16th, 2021 – 4pm-5pm (Paris time) Prof. Tracey Willis (Robert Jones and Agnes Hunt Orthopaedic and District Hospital…
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.…
Events
M&M’s – Muscle Monday Seminar – 6 December – Walter R. Frontera (Puerto Rico)
On 30/11/2021
Aging muscle in humans: a translational story Monday December 6th 2021 from 12:30 to 13:30 Walter R. Frontera, MD, PhD, FRCP (Professor in the Departments of…
Events
Release of the 88th newsletter from the Institute – November 2021
On 25/11/2021
In a few days, the 2021 Telethon will kick off! Soprano, the mentor of this edition, will be in the spotlight alongside the AFM-Telethon, families…
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…