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1385 news items
Research
Two new genes in Charcot-Marie-Tooth disease
On 02/05/2024
The gene for a seventh aminoacyl-tRNA synthetase has just been implicated in axonal dominant Charcot-Marie-Tooth disease (CMT) thanks to whole exome sequencing of three unrelated…
Research
Adult mitochondrial myopathy: very slowly progressive muscular damage of the limbs, often associated with multisystem damage and high mortality
On 02/05/2024
A retrospective study at the Mayo Clinic in Rochester (Minnesota, USA) was based on 94 cases of mitochondrial myopathy diagnosed in adulthood and followed up…
Research
A new tool for assessing swallowing disorders in young children with SMA
On 30/04/2024
German clinicians were interested in the swallowing disorders present in young patients with SMN1-related proximal spinal muscular atrophy (SMA), treated or untreated, and relatively unexplored…
Research
Virtual reality tele-rehabilitation is feasible and effective in DMD and BMD
On 30/04/2024
Spanish researchers have investigated the usefulness of virtual reality in the remote rehabilitation of 12 walking children aged between 5 and 15 suffering from Duchenne…
Research
A harness to support the mobility of young SMA patients
On 29/04/2024
US physiotherapists have tested a support harness linked to pulleys and a metal frame to facilitate the child’s movements in the three planes of space…
Research
Update of recommendations on musculoskeletal rehabilitation in neuromuscular diseases
On 29/04/2024
Initially drawn up in 2001, the recommendations for good practice on rehabilitation of the musculoskeletal system in neuromuscular diseases have been updated in a therapeutic…
Research
MFM and MRI of the thighs are the assessment tools most sensitive to changes in BMD
On 26/04/2024
In order to define parameters for monitoring and evaluating Becker muscular dystrophy (BMD) that could be used in clinical trials, a Belgian team conducted a…
Research
A Canadian survey highlights the very varied levels of knowledge of many adult neurologists regarding corticosteroid therapy
On 26/04/2024
Adult neurologists specialising in neuromuscular diseases often prescribe long-term corticosteroids, particularly for autoimmune diseases (myositis, myasthenia gravis, etc.): an online survey of 99 Canadian neurologists…
Research
Brody’s disease: reducing diagnostic delays by identifying mowing in childhood
On 25/04/2024
As Brody’s disease is often diagnosed in adulthood, even though discomfort may have been present since childhood, a Dutch team has reviewed the observations of…
Research
AOC 1001 in DM1: positive data after one year of treatment in the MARINA trial
On 25/04/2024
The MARINA trial is a double-blind, placebo-controlled Phase I/II trial which evaluated AOC 1001 for six months in Steinert’s disease (or DM1). It was followed…
Research
A promising aldose reductase inhibitor in SORD-related neuropathy
On 24/04/2024
Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It…
Research
Chinese study highlights importance of cognitive impairment in myasthenia gravis
On 24/04/2024
The existence of cognitive disorders in autoimmune myasthenia is still debated. Chinese researchers have investigated this question using a battery of tests: 41 patients with…
Research
MYOLOGY 2024: focus on the institute speakers
On 22/04/2024
The 8th International Congress of Myology will be held in Paris from 22 to 25 April 2024. Here are the eight themes that experts from…
Research
Initial results of the “Adult polyglucosan disease” register
On 19/04/2024
The Columbia University team publishes data collected since 2014 in the Columbia University APBD Registry (CAP ) and filled in by patients with adult polyglucosan…
Research
Vamorolone confirms its efficacy over one year in DMD without limiting growth
On 17/04/2024
In 2022 , the first results of a 6-month double-blind trial of vamorolone (Agamree®) versus placebo or prednisone were published. This synthetic steroid has been…
Research
DMD: Commercial go-ahead for givinostat (Duvyzat™) in the USA
On 15/04/2024
Givinostat, a drug developed by Italfarmaco for Duchenne and Becker muscular dystrophies, is a histone deacetylase (HDAC) inhibitor. On 21 March 2024, it was granted…
Research
A probable founder effect in a hereditary neuropathy with cyclic vomiting
On 11/04/2024
French clinicians and biologists report the observations of three families of North African origin who were diagnosed with deficiency of SMVT, a sodium-dependent multi-vitamin transporter:…
Research
GDF5, a “rejuvenating” treatment for age-related neuromuscular deficiency in mice
On 09/04/2024
A study conducted by the MOOVE* research team headed by France Pietri-Rouxel, in collaboration with several teams from the Institute and Sorbonne University, has just…
Events
Clinicians and researchers from the Institute at the Journées de neurologie de langue française
On 08/04/2024
The Journées de neurologie de langue française will be held in Paris from 9 to 12 April 2024. The main aim of these days is…
Research
Atamyo Therapeutics obtains authorisation to launch a gene therapy clinical trial in limb-girdle muscular dystrophy linked to SGCG
On 08/04/2024
Following several proofs of concept, Atamyo Therapeutics, a spin-off from Geenethon, has obtained authorisation to start a new gene therapy trial in patients suffering from…