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1655 news items
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…
Events
Save the date! 4th Neuromuscular Translational School, Nov. 21st-25th in Leiden, TheNetherlands
On 25/08/2022
The upcoming 4th Neuromuscular Translational School (under auspices of EURO-NMD and TREAT-NMD) will be held from November 21st- November 25th in Leiden (The Netherlands). Organized…
Research
Publication of the results of the phase II trial of amifampridine in SMA
On 25/08/2022
An Italian phase II, randomised, crossover, placebo-controlled trial evaluated the safety and efficacy of amifampridine, a molecule that improves neuromuscular junction function, in 13 adults…
Research
An atypical presentation of MELAS syndrome
On 25/08/2022
MELAS syndrome is classically presented as a mitochondrial encephalopathy complicated by lactic acidosis and recurrent strokes. However, this rare disease can have a more atypical…
Research
Myositis is very often accompanied by the use of painkillers
On 25/08/2022
In the United States, 423 people with dermatomyositis (n=183), polymyositis (109) or inclusion myositis (131), most of which had been previously diagnosed one to five…
Research
Asian mushroom supplements cause autoimmune necrotizing myopathy outbreak
On 24/08/2022
Rheumatologists from Baltimore (USA) report in the British Medical Journal the case of a thirty year old patient with autoimmune necrotizing myopathy with anti-HMGCR, with…
Research
A new imaging tool to assess FSH
On 24/08/2022
Facioscapulohumeral muscular dystrophy (FSH) has recently entered the era of therapeutic trials with several innovative molecules in clinical development. An international consortium of researchers has…
Research
A new tool for the follow-up of myasthenia gravis in teleconsultation
On 24/08/2022
The Covid-19 pandemic has boosted the use of video consultations and it is in this favourable context that a team of Italian neurologists has designed…
Research
Batoclimab successfully completes Phase II in myasthenia gravis
On 23/08/2022
Anti-FcRn drugs facilitate the elimination of IgG, which includes the autoantibodies produced in myasthenia gravis. The first drug in this family, efgartigimod (Vyvgart®), was granted…
Research
Recessive forms of desminopathy remain exceptional and very serious
On 23/08/2022
The classical forms of desminopathy are autosomal dominant and affect an essentially adult population. Belgian neuropediatricians report the exceptional case of a sibling of two…
Research
A new technology to identify pathological variants of the titin gene
On 22/08/2022
Titinopathies are neuromuscular diseases recently described. Their wide clinical heterogeneity combined with the very large size of the TTN gene is at the origin of…
Research
Start of saracatinib trial in myositis ossificans
On 22/08/2022
Since the discovery of the causative gene (ACVR1) in myositis ossificans or fibrodysplasia ossificans progressiva (FOP), several therapeutic avenues have been explored, including the potent…
Research
The phenotypic spectrum of an ultra-rare form of muscle glycogenosis is widening
On 22/08/2022
Glycogen synthase deficiency (also known as GSD type 0B) is an ultra-rare form of muscle glycogenosis first described in 2007 and linked to mutations in…
Research
The first Japanese case of myopathy linked to the myoglobin gene
On 22/08/2022
Myoglobinopathy gene (MB gene) is an autosomal dominant, ultra-rare neuromuscular disease characterized by microscopically visible sarcoplasmic inclusions. The new and first Japanese case reported here…
Research
Three years of newborn screening for SMA in New York
On 19/08/2022
A study of newborn screening in New York City was conducted between October 2018, when the state added SMA to its panel of diseases routinely…
Research
RYR1 mutations are also involved in a mild form of tubular aggregate myopathy
On 19/08/2022
An Italian team reports the observations of two unrelated men, aged 30 and 39 years, complaining of muscle stiffness after sustained physical activity or exposure…