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1385 news items
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…
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…
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,…
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…
Research
Beneficial effects of tamoxifen on muscle strength in mouse models of centronuclear myopathies
On 15/02/2023
A team from Strasbourg, supported by the AFM-Telethon, has studied the repositioning of tamoxifen in centronuclear myopathy (CNM), a drug which has already shown its…
Research
Cases of inflammatory myopathy with coexisting myositis-specific antibodies
On 14/02/2023
Researchers in Taiwan have focused on the rare cases of inflammatory myopathy in which the myositis specific autoantibody (MSA) assay was positive in at least…
Research
Nusinersen has differentiated neurometabolic effects depending on the severity of the SMA
On 14/02/2023
An Italian-American consortium of researchers studied the cerebrospinal fluid (CSF) of patients with spinal muscular atrophy (SMA) treated with intrathecal injections of nusinersen (Spinraza®) in…
Research
FOP : une tendance à l’efficacité du palovarotène
On 13/02/2023
Forty people with fibrodysplasia ossificans progressiva (FOP), aged 7 to 53 years, participated in the phase II trial of palovarotene, a selective gamma retinoic acid…