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1699 news items
Research
A metabolic myopathy with a frequently poor prognosis reported in Japan
On 02/02/2023
Multiple acyl-CoA dehydrogenase (MADD) deficiency is responsible for a metabolic myopathy linked to three distinct genes: ETFA, ETFB and ETFDH. Japanese researchers compiled clinical and…
Research
A 5-year natural history to define relevant long-term follow-up parameters for GNE myopathy
On 01/02/2023
Manual testing (especially of the shoulder girdle muscles), gross motor function measurement (GMFM scale), thumb-index clamp, vital capacity, DEXA lean body mass and the physical…
Research
Late-onset DM1: cardiac conduction disorders as frequent as in the classical form
On 31/01/2023
A Dutch team compared the muscular, respiratory and cardiac phenotype of 275 people with classic myotonic dystrophy type 1 (DM1) (median age of onset: 25…
Events
The Summer School of Myology is back in hybrid format to celebrate its 25th anniversary
On 27/01/2023
The 25th Summer School of Myology will take place at the Institute of Myology in Paris from June 12 to 16, 2023 in two ways:…
Research
Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
On 26/01/2023
Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiencies, for which coenzyme Q10 supplementation has led to stabilisation of…
Research
Paediatric forms of FLNC cardiomyopathy are rare but important to know
On 25/01/2023
Abnormalities of the FLNC gene encoding filamin C have been described in isolated myofibrillar myopathies or cardiomyopathies. Italian researchers conducted a retrospective study of paediatric…
Research
Feedback on innovative therapies for myasthenia gravis
On 25/01/2023
The last five years have seen an unparalleled development of therapies targeting severe and/or refractory forms of myasthenia gravis (MG). US clinicians shared their experiences…
Research
Bacopa-containing food supplement involved in autoimmune necrotizing myopathy
On 25/01/2023
A team from Stanford (USA) has published the case of a 21 year old man with no notable history or long-term treatment: he presented with…
Research
A survey of genetic counselling in neurogenetic diseases, including DM1
On 24/01/2023
A French team conducted a study of 562 patients with autosomal dominant neurological diseases (Huntington’s disease, spinocerebellar ataxias, DM1, etc.). The vast majority of families…
Research
Electrophysiological studies are useful in differentiating CMS
On 24/01/2023
Researchers from the Institute of Myology analysed electroneuromyography data from 120 patients with congenital myasthenic syndromes (CMS) and compared them with the results of genetic…
Research
Evolution of scoliosis in SMA type II in absence of modifying treatment
On 24/01/2023
To address the lack of data on the course of scoliosis without treatment that could be used as a benchmark for clinical trials or modifying…
Research
Quantitative muscle imaging enables early detection of degenerative lesions in calpainopathies
On 23/01/2023
German researchers compared quantitative magnetic resonance imaging (MRI) data of a set of muscles from 19 patients with calpainopathy and 19 healthy subjects. These data…
Events
Institute seminar – Jan 26th – 3pm: Stefan Winblad, PhD. (Sweden)
On 23/01/2023
Cognitive impairments in neuromuscular disorders Thursday, 26 January 2023 – 3pm-4pm Stefan Winblad (University of Gothenburg, Sweden) Amphitheatre C (Ground Floor) 91 Boulevard de…
Events
ERN EURO-NMD webinar, January 26th – Prof. Kristl Claeys (Belgium)
On 23/01/2023
Proximal Weakness 26 January 2023 – 16:00 Paris time Pr Kristl Claeys (University Hospitals Leuven, Belgium) Inscription : https://zoom.us/webinar/register/WN_4pKJp8MYRTGiCJKp4K4x1w Organised by EURO-NMD in collaboration with ERN-RND…
Research
Motor plate analysis relevant to the diagnosis of seronegative myasthenia
On 23/01/2023
A Japanese team evaluated the value of studying the motor plate in people who were negative for anti-RACh and anti-MuSK antibodies. Twenty people with symptoms…
Research
Myasthenia gravis: the role of thymic macrophages is essential
On 20/01/2023
Myasthenia gravis (MG) is a neuromuscular disease related to the deleterious action of autoantibodies directed against elements of the neuromuscular junction, most often against the…
Research
Anti-fibrotic drug therapies in skeletal muscle diseases
On 20/01/2023
Fibrosis is defined as an excessive accumulation of extracellular matrix. It can affect many organs, including the lungs, liver, heart, skin, kidneys and muscles. Muscle…
Research
Depression and anxiety are common in CMT
On 20/01/2023
An analysis of data from the Italian Charcot-Marie-Tooth (CMT) disease registry shows that: 14% suffer from psychological distress, 10% from depression (compared to 4% and…
Research
Molecular improvement and signs of clinical efficacy in the AOC 1001 trial in DM1
On 20/01/2023
Avidity Biosciences announced in a press release the first results of the MARINA phase 1-2 trial of AOC 1001 in 44 people with Steinert’s disease…
Research
Intravenous immunoglobulin (IgIV) therapy does not facilitate corticosteroid dose reduction in corticosteroid-dependent Myasthenia gravis
On 19/01/2023
Intravenous immunoglobulins (IgIV) have shown a cortisone-sparing effect in several autoimmune diseases. An international team conducted a clinical trial to evaluate this effect in myasthenia…