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2414 news items
Research
Clear mitochondrial abnormalities and dermatomyositis: a case report
On 02/11/2023
A team of Italian clinicians report the observation of a 77-year-old woman presenting with a classic picture of dermatomyositis (DM) with positive anti-Mi-2 autoantibodies: study…
Research
Russian success with tofacitinib in FOP
On 02/11/2023
Treatment with tofacitinib 5 mg twice daily was evaluated in 13 children with chronic fibrodysplasia ossificans aged 2.2 to 19.6 years: it reduced the mean…
Research
The French Cannemuss study confirms the efficacy of anti-Covid-19 messenger RNA vaccines in cases of amyotrophy
On 31/10/2023
As the Covid-19 booster vaccination campaign gets underway in France, a new publication of the results of the Cannemuss observational study (supported by the AFM-Téléthon…
Research
FSHD: searching for the ideal biomarker
On 31/10/2023
British and Dutch researchers have joined forces to discover a possible biological marker for facioscapulohumeral muscular dystrophy (FSHD): in view of the disappointing and/or contradictory…
Research
Poor quality sleep in CMT?
On 31/10/2023
The Italian Charcot-Marie-Tooth registry conducted a study of sleep and sleepiness among more than 250 patients: 56% had poor quality sleep. 23% doze off during…
Research
First clinical results of a gene therapy for the treatment of FKRP-related LGMD
On 30/10/2023
The initial results of the ATA-100 gene therapy clinical trial for the treatment of limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9) were presented…
Research
Camptocormia and a dropped head are poor prognostic factors in certain forms of myositis
On 30/10/2023
An international consortium of clinicians coordinated by the Strasbourg Reference Centre looked at patients with inflammatory myopathy with regard to two uncommon clinical signs: camptocormia…
Research
Challenges facing people with primary mitochondrial myopathy
On 30/10/2023
An article on primary mitochondrial myopathies has been published by the Mitochondrial Medicines Society (MMS) and the United Mitochondrial Disease Foundation (UMDF): it highlights and…
Research
The phenotype of patients with SMA carrying 4 copies of the SMN2 gene varies significantly
On 27/10/2023
The Italian ITASMAC network dedicated to spinal muscular atrophy (SMA) studied 169 individuals, children or adults, with a homozygous deletion of the SMN1 gene and…
Research
A bone marrow tumour discovered late after treatment with Zolgensma®: case report
On 26/10/2023
American clinicians report the observation, unique to date, of a child diagnosed with SMA in the neonatal period and then treated with gene therapy (Zolgensma®…
Research
New tools for assessing the follow-up of two forms of muscular dystrophy
On 25/10/2023
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use…
Research
When smartphones and AI combine to assess myasthenia gravis in real life
On 24/10/2023
UCB and Sharecare conducted a three-month prospective real-life study in the United States involving 82 patients with moderate to severe autoimmune myasthenia gravis. The participants…
Research
A study of drug management of neurobehavioural disorders in DMD
On 24/10/2023
A team analysed the medical records (66 prescriptions) of 52 boys with Duchenne muscular dystrophy (DMD), aged 11 on average, who had received drug treatment…
Research
Significant drug iatrogenicity in late myasthenia gravis
On 23/10/2023
A retrospective study of the medical data of 493 people suffering from autoimmune myasthenia followed by the university hospital centres of Strasbourg, Lyon, Grenoble and…
Research
Results of the phase II-III trial of AMO-02 in congenital DM1
On 20/10/2023
The results of the international REACH-CDM trial involving 56 children aged between 6 and 16 with the congenital form of myotonic dystrophy type 1 were…
Research
Right heart involvement in DMD is a poor prognostic factor
On 19/10/2023
A study of the respiratory and systolic functions of the right ventricle on Doppler echo in 90 young men with Duchenne muscular dystrophy (DMD), with…
Research
Senolytic molecules improve the behaviour of muscle stem cells in DM1
On 18/10/2023
In DM1, muscle stem cells adopt the characteristics of senescent cells, including the secretion of senescence-associated secretory phenotype (SASP). A Canadian team showed that :…
Research
Infantile myasthenia remains ocular and usually evolves favourably
On 17/10/2023
A retrospective study of 859 patients followed by a Shanghai hospital for Myasthenia gravis diagnosed before the age of 14 found : an ocular form…
Research
Tofacitinib effective on dermatomyositis skin lesions, but not really on muscle
On 16/10/2023
A Canadian team conducted a single-center study of 41 people with refractory myositis treated with tofacitinib after failure of four to five immunosuppressants: 23 had…
Events
MYOLOGY 2024: registration and submission of abstracts now open
On 12/10/2023
The website for the 8th edition of the international congress dedicated to neuromuscular science MYOLOGY 2024, to be held in Paris from 22 to 25…