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Research
CTLA4-positive thymus cells may protect against the risk of developing autoimmune myasthenia
On 08/03/2023
In a search for the determinants of autoimmune myasthenia, Catalan researchers have analysed the immunological signatures of several cases of thymoma: the study included 41…
Research
Active and early treatment of autoimmune myasthenia ensures a better long-term outcome
On 06/03/2023
Japanese researchers retrospectively analysed the treatment regimens of 1066 patients diagnosed with generalised myasthenia gravis. Early cycles of fast-acting treatment (EFT) included plasmapheresis (EP), intravenous…
Research
Results of a survey conducted by FSHD Europe
On 03/03/2023
The results of a European survey on the expectations of clinical trials of 1147 people with facioscapulohumeral myopathy living in 26 European countries including France…
Research
The effectiveness of therapies in DMD depends on the territorial distribution of dystrophin
On 01/03/2023
The distribution of dystrophin in the muscle fibre is not uniform. It is dependent on the cell nuclei, thus creating small functional units at the…
Research
An exploration of the role of second-line treatments in resistant forms of juvenile dermatomyositis
On 28/02/2023
Conventional treatments for juvenile dermatomyositis (corticoids, methotrexate, immunoglobulins) are sometimes ineffective and/or poorly tolerated. More recent molecules can then be proposed. A survey of 121…
Events
Rare diseases: AFM-Telethon calls for the creation of a public fund to ensure access to treatment
On 28/02/2023
To mark International Rare Disease Day on 28 February, AFM-Telethon is advocating for the creation of a public intervention and innovation fund in France for…
Research
A Canadian observation of congenital myasthenic syndrome with mutations in the SLC5A7 gene
On 27/02/2023
To date, 34 genes are involved in congenital myasthenic syndromes (CMS), including SLC5A7. The latter encodes CHT1, a protein responsible at the presynaptic level for…
Research
Long-term outcome of twelve women with early-onset dystrophinopathy in the Netherlands
On 24/02/2023
The first signs of dystrophinopathy (motor and/or language delay, feeding difficulties, exercise intolerance, fatigue and myalgias…) appeared in these women from birth to the age…
Research
Towards an extension of the phenotypic range of variants linked to the PSAT1 gene?
On 23/02/2023
Mutations identified in the PSAT1 gene were previously known to cause abnormalities, often severe, of the central nervous system. Beijing researchers report the original case…
Research
Efgartigimod passes phase III and early access in Myasthenia Gravis
On 23/02/2023
A disease of the neuromuscular junction, Myasthenia Gravis benefits from relatively intense therapeutic research for a rare disease with more than 60 clinical trials underway…
Research
Description of a second form of DNAJB4-related myopathy
On 22/02/2023
Two months after the publication of a new DNAJB4-related myopathy in four patients, a Japanese-American study describes six more patients with another, as yet unreported,…
Research
Publication of the first prospective natural history study of FOP
On 21/02/2023
An international study carried out in eight expert centres (including one in France) for fibrodysplasia ossificans progressiva (FOP) has clarified the natural history of the…
Research
Scoliosis in children with SMA type I receiving nusinersen
On 20/02/2023
A Canadian team from Toronto reports the development of scoliosis in seven infants with SMA type I (homozygous deletion of SMN1 with 2 copies of…
Treatments and diagnosis for rare diseases: crucial issues
On 17/02/2023
The availability of treatments and the end of diagnostic delays are major challenges for people with rare diseases. AFM-Telethon and the actors of the Rare…
Research
Muscle imaging as an assessment methodology in OPMD
On 17/02/2023
Canadian researchers have developed a whole-body magnetic resonance imaging protocol to aid diagnosis and study the natural history of the disease in ten patients with…
Research
Clinical gender differences in FKRP-related LGMDR9
On 17/02/2023
Using four patient registries, one study was able to identify all patients (153) in Norway with genetically confirmed FKRP-related LGMD R9. The estimated disease prevalence…
Research
Current innovative treatments for SMN1-related proximal spinal muscular atrophy in adults
On 16/02/2023
Prof. Cintas of the Toulouse Neuromuscular Reference Centre published in December 2022 a review of new therapies for SMN1-related proximal spinal muscular atrophy (SMA) in…
Research
Retinal anomalies in inflammatory myopathies are frequent and should not be overlooked
On 16/02/2023
Indian and British researchers studied these phenomena by subjecting the patient cohort named MyoCite to a battery of ophthalmological tests. 43 adults with inflammatory myopathy,…
Events
ERN EURO-NMD webinar, Feb. 16th – Stéphane Vassilopoulos (France)
On 15/02/2023
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation 16 February 2023 – 16:00 Paris time Stéphane Vassilopoulos (Myology Centre for Research, Institute of Myology, France)…
Research
Constipation in SMA type I can be controlled with the right diet
On 15/02/2023
British clinicians conducted a clinical trial of a diet rich in amino acids and probiotics in 14 children with type I spinal muscular atrophy. To…