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1385 news items
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…
Research
Early lessons from newborn mass screening for DMD in Taiwan
On 19/08/2022
The Taiwanese health authorities have launched a newborn screening program for Duchenne muscular dystrophy (DMD) starting with the region of Taipei. Approximately 50,000 newborns have…
Research
Investigate and manage pain in DMD at any age
On 18/08/2022
A South Korean team interviewed 148 boys with Duchenne muscular dystrophy with an average age of 14.5 years: 86 boys had lost walking: 35 were…
Research
The INCEPTUS study confirms the frequency of liver damage in X-linked myotubular myopathy
On 18/08/2022
The international INCEPTUS study, a natural history study prior to the ASPIRO gene therapy trial to which I-Motion (Hôpital Armand trousseau, Paris) contributed, involved 34…
Research
Central core disease: facial involvement makes the difference
On 17/08/2022
A Brazilian team analyzed the clinical presentation and RYR1 gene variants found by next-generation sequencing (NGS) of 27 individuals with central core myopathy, aged one…
Research
Ultrasound nerve imaging may be useful in CMT
On 17/08/2022
Due to technological advances in ultrasound equipment, it is now possible to visualize nerves along their entire length. An international consortium of German, Algerian and…
Research
Late-onset sporadic nemaline myopathy: of the importance of α-actinin immunostaining and of the efficacy of corticosteroids combined with an immunosuppressant
On 16/08/2022
A Chinese retrospective study of 17 individuals with sporadic late-onset nemaline myopathy (SLONM), including four with monoclonal gammopathy of undetermined significance (MGUS), shows positive muscle…