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1385 news items
Research
Inhibiting the proteasome to treat OPMD
On 04/10/2022
Researchers from the University of Montpellier, supported by the AFM-Telethon, have shown that muscle cell damage in oculopharyngeal muscular dystrophy (OPMD) is mediated by overactivation…
Research
A non-Kennedy SBMA linked to the UBA1 gene
On 04/10/2022
A new form of bulbospinal muscular atrophy has just been described by Iranian clinicians in 4 patients: it is an SBMA linked to the UBA1…
Research
Early-onset SMA: a German real-life study of children treated with nusinersen
On 03/10/2022
Analysis of data collected by the German-speaking SMArtCARE observatory of 143 patients under 18 years of age with early-onset SMA who had not acquired sitting…
Research
FKRP Limb-girdle muscular dystrophy : 1st patient treated in the European gene therapy clinical trial
On 29/09/2022
The AFM-Telethon and its laboratory Genethon are delighted with the treatment of the first patient included in the European gene therapy trial for limb-girdle muscular…
Research
Moxifloxacin, an antibiotic of interest in SMA
On 29/09/2022
An I-STEM team identified moxifloxacin for its ability to increase SMN protein production in a cell-based model screen of already marketed molecules. Administered daily subcutaneously…
Research
A review of the literature compares prednisone and deflazacort in DMD and favours the latter in the short term, while in the long term their effects are similar
On 22/09/2022
Corticosteroids prescribed from the age of 4 to 5 years in Duchenne muscular dystrophy enable the loss of walking to be delayed by at least…
Research
ERN EURO-NMD webinar, Sept. 22nd : Prof. Costanza Lamperti (Italy)
On 22/09/2022
Mitochondrial Genetics Thursday September 22nd, 2022 – 16:00-17:00 (Paris time) Prof. Costanza Lamperti (lstituto Neurologico C.Besta, Milan, Italy) Please register here to attend the webinar Webinar…
Research
What alternative to face-to-face rehabilitation in DMD?
On 19/09/2022
In a study published in May 2022, a Turkish team carried out a measurement of muscle strength and a functional evaluation of motor performance in…
Events
Myology 2022: opening session
On 16/09/2022
On Monday, September 12, took place the opening session of the 7th edition of the international congress Myology 2022 was held with Laurence Tiennot-Herment, president…
Research
McArdle: clinical trial proves benefits of exercise
On 14/09/2022
A clinical trial of 17 people with McArdle’s disease demonstrated the potential benefits of a 2-year training program targeting endurance and strength. Six of the…
Events
Myology 2022: Institute of Myology experts will highlight their last scientific results
On 09/09/2022
During four days, from 12 to 15th of September, researchers and clinicians of the Institute of Myology will attend the seventh International Congress of Myology,…
Research
Diaphragm involvement in Pompe disease more clearly visualized on imaging
On 02/09/2022
The diaphragmatic muscle is a key muscle in Pompe disease, which causes its dysfunction due to a toxic accumulation of glycogen. Dutch researchers studied this…
Research
Rituximab is proving to be an effective background treatment for MG, including in children
On 02/09/2022
Rituximab is an injectable monoclonal antibody that depletes B lymphocytes (CD20+); it is increasingly used in autoimmune diseases, including myasthenia. A Spanish study confirmed its…
Research
A novel method to treat recurrent pneumothorax in Ullrich myopathy
On 01/09/2022
American authors report the case of a 19-year-old patient suffering from Ullrich myopathy (collagen VI deficiency) since childhood and who presented a recurrent pneumothorax in…
Research
ACTA1 gene-related nemaline myopathies: an international study to clarify phenotypes
On 31/08/2022
Pathological variants of the ACTA1 gene are responsible for half of the cases of nemaline myopathy (also known as rod myopathy). An international collaboration coordinated…
Research
One in five adults with dermatomyositis discontinues immunomodulators at a median of three years
On 30/08/2022
In the United States, an expert center studied a cohort of 243 adults with dermatomyositis followed between 2013 and 2020 and treated with at least…
Research
hiPSCs as a cellular model applicable to several LGMDs
On 29/08/2022
Researchers from the I-Stem and Genethon laboratories have explored the relevance of human induced pluripotent stem cells (hiPSC) for the cellular modeling of limb-girdle muscular…
Research
The value of salbutamol in a form of CMS
On 29/08/2022
Clinicians report the case of an Egyptian brother and sister diagnosed with congenital myasthenic syndrome (CMS) linked to the gene encoding the acetylcholine receptor epsilon…
Research
A new biomarker for autoimmune muscle rippling
On 26/08/2022
An American team retrospectively studied the clinical and biological data of ten patients with a non-genetic form of muscle rippling. Rippling is a spontaneous or…
Research
What impact do swallowing disorders have on the survival of patients with inflammatory myopathy?
On 26/08/2022
Japanese clinicians studied dysphagia and other swallowing disorders in 254 patients with one of the forms of myositis (dermatomyositis, polymyositis, others), excluding inclusion myositis: a…