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1385 news items
Research
Myasthenia and thymoma in children: a very rare association
On 28/11/2022
In the context of a recent revision of the classification and recommendations for certain rare cancers, Italian researchers conducted a comprehensive review of the literature…
Research
Magnetic resonance imaging useful for measuring the impact of motor neuron loss in SMA
On 25/11/2022
German researchers have developed a multiparametric neuromuscular imaging protocol to estimate the impact and follow the evolution of motor neuron loss in patients with spinal…
Research
Exoskeleton and SMA: first feedback
On 22/11/2022
An exoskeleton is a complex and sophisticated piece of equipment that can partially compensate for a person’s motor deficiencies in the context of paralysis. Spanish…
Research
A first observation of a gender effect in SMA
On 21/11/2022
Italian clinicians investigated new predictive factors for the evolution of SMA according to age, type of SMA and gender in 165 adult patients. There were 64…
Research
Firdapse® in Myasthenia Gravis too?
On 21/11/2022
3,4-diaminopyridine or amifampridine (Firdapse®) is already indicated in some myasthenic syndromes, congenital or autoimmune (Lambert-Eaton). In the past, case reports had alerted to the possible…
Research
Barriers to heart transplantation in MELAS syndrome remain numerous
On 18/11/2022
MELAS syndrome is associated with mitochondrial encephalomyopathy, elevated lactic acid and pseudo strokes. Impairment of cardiac and renal function is also frequently reported. Italian researchers…
Research
Apremilast, a useful additional treatment for refractory skin lesions in dermatomyositis
On 17/11/2022
According to the results of a phase IIa trial conducted in the United States in 8 adult patients with dermatomyositis with well-treated resistant skin lesions…
Research
Evidence for earlier prescription of rituximab in adult generalized myasthenia gravis
On 17/11/2022
At a time when new therapeutic families are emerging in autoimmune myasthenia, an “old” treatment (rituximab) could play a new role. Indicated until now in…
Research
Evolution of autoantibodies in MG: a review of the literature
On 14/11/2022
Myasthenia gravis (MG) is mostly related to the abnormal production of autoantibodies directed either against the acetylcholine receptor (ARch) or against the MuSK receptor, and…
Research
Anemia and myasthenia gravis
On 09/11/2022
Anemia and myasthenia gravis (MG) are two pathological situations more often reported in the female population. Their association is frequent and of multifactorial origin. Japanese…
Research
Dystrophin restoration after AAV U7-mediated Dmd exon skipping is modulated by muscle exercise in a mouse model of severe DMD
On 07/11/2022
A team of French researchers, involving researchers from the Institute, showed in a mouse model of severe DMD that voluntary exercise has an impact on…
Research
Developing allele-specific versatile siRNAs that can silence all dominant mutations in dynamin 2
On 04/11/2022
Dominant mutations in the DNM2 gene encoding Dynamin 2 (DNM2) cause centronuclear dominant myopathy (CNM), rare cases of Charcot-Marie-Tooth disease and hereditary spastic paraplegia. Deleterious…
Research
Dutch team confirms the importance of cardiorespiratory monitoring in patients with SEPN1- and LAMA2-related myopathies
On 03/11/2022
A team from Radboud University in the Netherlands compiled the cardiac involvement of 192 cases of SEPN1-related myopathies (mean age 19 years) and 131 cases…
Research
FOP: the day-to-day burden of the disease
On 31/10/2022
An international survey (NCT04665323), sponsored by the pharmaceutical company Ipsen, which develops palovarotene, and translated into 11 languages was available online between January and April…
Research
A new mutation mechanism in SMA
On 31/10/2022
A few very rare cases of SMA are accompanied by complex genotypes. In this context, a team of French researchers has identified a novel mutation…
Research
How to treat hypercholesterolemia in the context of Immune-mediated necrotizing myopathy?
On 28/10/2022
Immune-mediated necrotizing myopathy (IMNM) is very often linked to the use, whether prolonged or not, of statins. These cholesterol-lowering molecules are prescribed to nearly one…
Research
Atypical forms of inclusion myositis are not so exceptional
On 27/10/2022
Inclusion myositis (or IBM for Inclusion body myositis) belongs to the group of inflammatory myopathies of autoimmune origin. US researchers from the Mayo Clinic compiled…
Research
The value of myostatin measurement in the follow-up of inflammatory myopathies
On 27/10/2022
Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in…
Research
How American families affected by Duchenne or Becker muscular dystrophy feel about newborn screening
On 25/10/2022
In order to better understand the preferences of families regarding newborn screening, a questionnaire was completed by 66 families affected by Duchenne or Becker muscular…
Research
DMD: positive results of Viltolarsen confirmed over two years
On 24/10/2022
May 2020, the publication of the results of the phase II clinical trial of Viltolarsen, in 16 boys with DMD aged 4 to 9 years,…