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An overview of the management of mitochondrial diseases in Europe
On 16/11/2023
To gain a better understanding of the needs in terms of diagnosis, management and training in primary mitochondrial myopathies in Europe, a survey was carried…
Myositis patients prefer subcutaneous Ig at home to intravenous infusions in hospital
On 16/11/2023
“I have regained control of my life”. This verbatim summarises the very consensual view of a group of seven adults with polymyositis or dermatomyositis on…
Hypokalemic periodic paralysis may present as progressive muscle weakness with or without episodes of periodic paralysis
On 16/11/2023
A Danish team followed 37 people with hypokalaemic periodic paralysis due to CACNA1S mutations for three years (26 to 52 months): two were asymptomatic 21…
Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging
On 15/11/2023
Oculopharyngodistal myopathy (OPDM), which is very rare, differs from oculopharyngeal myopathy (OPMD) both genetically and clinically. Japanese researchers sought to identify these differences using magnetic…
Three studies establish links between intestinal microbiota and myasthenia gravis
On 15/11/2023
The role of intestinal flora is the subject of sustained attention in medical research, particularly in dysimmune diseases such as myasthenia gravis. Various publications point…
22nd meeting of the French network of “Emery-Dreifuss muscular dystrophies and other nuclear envelope pathologies” on November 10
On 14/11/2023
The 22nd French network meeting on “Emery-Dreifuss muscular dystrophies and other pathologies of the nuclear envelope” was held on Friday, November 10, 2023, from 9:15…
M&M’s – Muscle Monday Seminar – 20 November – Johan Auwerx (Switzerland)
On 14/11/2023
Ceramide de novo synthesis links muscle disorders with mitochondrial and protein homeostasis 20th November 2023, from 12 to 1pm Johan Auwerx, M.D., Ph.D. (Ecole Polytechnique…
When artificial intelligence helps analyse walking disorders
On 13/11/2023
Japanese researchers have developed an algorithm based on artificial intelligence (AI) to analyse changes in gait in several pathologies: 114 patients, including 45 with neuromuscular…
Vamorolone (Agamree®) authorised in the USA for DMD from the age of 2; a decision expected in Europe soon
On 10/11/2023
Vamorolone is a “dissociative” synthetic steroid developed by Santhera and ReveraGen for Duchenne muscular dystrophy, as an anti-inflammatory treatment alternative to conventional corticosteroids. The FDA…
Metformin may have a protective effect on statin muscle toxicity
On 10/11/2023
This is the finding of a one-year Korean study which compared 4,092 patients on statins + metformin with 8,161 patients on statins alone. Analysis of…
12th French Pompe Disease Day on November 9 at the Institute
On 09/11/2023
The Institut de Myologie hosted the 12th Journée Française Maladie de Pompe on November 9. Under the aegis of the AFM, the Association Francophone des…
US recommendations on the use of immunoglobulins in MNM
On 09/11/2023
Immunoglobulins are still widely prescribed for certain neuromuscular diseases of autoimmune origin, despite the absence of irrefutable scientific evidence. The scarcity of this type of…
French study highlights neurotoxicity of immune checkpoint inhibitors
On 09/11/2023
Clinicians and researchers belonging to two oncology networks, including one devoted to paraneoplastic syndromes, have studied neurological complications arising during the use of a new…
Institute researchers at the 4th International Imaging in Neuromuscular Disease Conference
On 08/11/2023
The 4th International Imaging in Neuromuscular Disease Conference organized by the MYO-MRI consortium was held in Berlin, Germany, from November 5 to 7, 2023. This…
A very high risk of cardiac complications in Emery-Dreifuss muscular dystrophy
On 08/11/2023
An international consortium of researchers and clinicians investigated disorders of cardiac function and/or cardiac rhythm during the course of Emery-Dreifuss muscular dystrophy linked to the…
Neuromuscular diseases in developing countries: increasing genetic data from under-represented populations
On 07/11/2023
While most (86%) published genetic data on neuromuscular diseases comes from populations of European ancestry, the majority of affected families live in low- to middle-income…
Congenital myasthenic syndromes are common in India
On 07/11/2023
The team of clinicians at Bangalore University Hospital in southern India compiled clinical and genetic data on all cases of congenital myasthenic syndrome (CMS) diagnosed…
A founder effect identified in South Indian patients with beta-sarcoglycanopathy
On 06/11/2023
Beta sarcoglycanopathy is one of the four forms of limb-girdle myopathy associated with sarcoglycan deficiency. Indian clinicians have just identified an outbreak of this disease…
A comparative study of the extra-muscular manifestations of anti-synthetase syndrome and dermatomyositis
On 03/11/2023
As part of the MYONET patient registry, a consortium of clinicians compared the clinical and biological data of adult patients with either antisynthetase syndrome (ASys)…
ERN EURO-NMD webinar, 9th Nov. – Prof. Dr. Joachim Weis (Germany)
On 02/11/2023
Pathology of Peripheral Nerves 9 novembre 2023 – 16h heure de Paris Prof. Dr. Joachim Weis (University Hospital RWTH Aachen, Germany) Inscription : https://zoom.us/webinar/register/WN_GJo64JBoRxiF0Fau5sfzhQ Organisé…