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1699 news items
Research
Steinert disease: Mexiletine is not effective for walking but for myotonia
On 24/03/2022
Steinert disease (DM1) is one of the most common neuromuscular diseases in adults. It affects both muscles and others organs such as heart, eye, endocrine…
Research
Phenylbutyrate restores dysferlin localization and membrane repair in cellular and animal models of dysferlinopathies
On 18/03/2022
Missense mutations account for 30 to 40% of abnormalities responsible for dysferlinopathy. They generate abnormal, misfolded and unstable dysferlins, which can result in an absence…
Research
Calpain 1 gene involved in spinal muscular atrophy type 4 unrelated to SMN1
On 16/03/2022
Whole genome sequencing of a brother and sister with an adult-onset form of SMA without mutation in the SMN1 gene revealed a compound heterozygous mutation…
Research
Splicing efficiency of minor introns in a mouse model of SMA
On 15/03/2022
Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by mutations in the SMN1 gene resulting in a decreased expression of the ubiquitous SMN…
Research
A natural microRNA spiked with small molecules to knock down DUX4 in FSHD
On 14/03/2022
Facioscapulohumeral muscular dystrophy (FSHD or FSH) is characterized by an aberrant expression of the DUX4 gene. To prevent it, in a gene silencing approach, a…
Research
Myasthenia gravis: launch of the MYaEX study
On 14/03/2022
The Institute of Myology and AFM-Telethon have launched MYaEX, a large national survey regarding persons with myasthenia gravis, congenital myasthenic syndrome or Lambert Eaton myasthenic syndrome. …
Research
Searching for protective factors against cancer risk in dermatomyositis
On 11/03/2022
American researchers were interested in patients with dermatomyositis who did not develop cancers in addition to their muscle disease. Their immunological profile has been studied…
Research
Systemic injection of an optimized antisense oligonucleotide into an FSH mouse model appears to be effective
On 10/03/2022
Facioscapulohumeral dystrophy (FSH) is one of the most common myopathies. There are two forms, FSH1 and FSH2. In both cases, the DUX4 gene is abnormally…
Research
A catalog of sodium channel variants to guide in the diagnosis of certain myotonic syndromes
On 09/03/2022
An international consortium of researchers has catagorized, based on literature data, the biophysical and genetic characteristics of 437 sodium channel variants known to date (including…
Research
An innovative test for the genotyping of difficult cases of DMD and a better pathophysiological approach
On 08/03/2022
Italian researchers have developed, in conjunction with the Perkin-Elmer laboratory, a test based on RNA sequencing (RNA-seq) to detect and interpret the pathogenic nature of…
Research
Gastrointestinal motility disorders may accompany dermatomyositis
On 08/03/2022
Publishing a study on a case, a team of Texan internists recalls the possibility of various digestive motor disorders in dermatomyositis: proximal dysphagia (pharynx and…
Research
No beneficial effect of resveratrol in fatty acid oxidation disorders
On 07/03/2022
Resveratrol has been studied in a randomized, placebo-controlled, cross-over clinical trial. Organized jointly by French, Danish and Dutch, the study aimed to measure possible positive…
Research
A compilation of data on primary carnitine deficiencies
On 03/03/2022
A review of the literature carried out by Dutch authors sheds light on the symptoms and signs, often disparate, associated with this metabolic disease discovered…
Research
Update on hematological abnormalities in neuromuscular genetic pathologies
On 02/03/2022
American researchers examined the presence and type of blood abnormalities existing in certain hereditary myopathies. These abnormalities may be of interest for the positive diagnosis,…
Research
Glucocorticoids more helpful for breathing than for the heart past loss of walking ability in DMD
On 01/03/2022
American clinicians have been trying to find out if long-term corticosteroid therapy in DMD could be of any use in the non-ambulatory stage of the…
Research
Variety of practices in the cardiac management of patients with DMD
On 28/02/2022
American cardio-paediatricians gathered within the ACTION network (Advanced Cardiac Therapies Improving Outcomes Network) were questioned about their management practices concerning DMD: 31 specialists from 23…
Research
High-throughput genomic sequencing (NGS) proves reliable for detecting deletions of the SMN1 gene
On 25/02/2022
Chinese researchers associated with the Beijing Genomics Institute (BGI) compared three molecular biology techniques to detect the number of copies of the SMN1 gene in…
An online survey of genetic information in relatives
On 24/02/2022
As part of the IGP rare project, which emanates from a collective bringing together health professionals, researchers and patient associations, an online survey was launched…
Research
Plasma biomarkers in myositis ossificans
On 24/02/2022
Myositis ossificans or fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disease associating progressive ankylosis and malformative bone abnormalities. American researchers have identified several biomarkers…
Research
A meta-analysis confirms the increase of 10 years in life expectancy in DMD
On 24/02/2022
A team of British and Swedish researchers calculated the life expectancy of persons with Duchenne muscular dystrophy (DMD) from individual survival data extracted from survival…