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1655 news items
Research
An unexpected side effect of SMA gene therapy
On 17/06/2022
Side effects of the onasemnogene abeparvovec (OA), the gold standard for gene therapy of infants with SMA, are rare but potentially worrying. Italian clinicians report…
Research
International guidelines for heart rhythm disorders in NMD
On 16/06/2022
International specialists in neuromuscular pathology associated with cardiologists have established practical guidelines for rhythm disorders encountered in diseases such as Duchenne and Becker muscular dystrophies,…
Research
The responsibility of the HNRNPA2B1 gene confirmed in certain neuromuscular phenotypes
On 16/06/2022
HNRNPA2B1 belongs to a group of RNA-binding proteins (RBPs) whose pathological variants cause various disorders, in particular neuromuscular (SLA, distal myopathy or other). An international…
Research
A comparative study of muscle MRI in autoimmune myopathies
On 15/06/2022
Beijing researchers, in addition to clinical and immunological studies, have analysed muscle MRI images in a cohort of 168 Chinese patients with various forms of…
Research
ERN EURO-NMD webinar, June 16th: Prof. Dr. Stravos Kiliaridis, PhD (Switzerland)
On 14/06/2022
Jaw malformations and teeth malpositions in Neuromuscular Disease Thursday June 16th, 2022 – 16:00-17:00 (Paris time) Prof. Dr. Stravos Kiliaridis, PhD (University of Geneva & University of…
Research
A new biomarker for fibrosis in DMD
On 14/06/2022
The fibrosis constantly observed in the muscle of patients suffering from Duchenne muscular dystrophy (DMD) remains largely an enigma and is not easily accessible to…
Research
Thrombocytopenia and GNE myopathy: a not so fortuitous association
On 13/06/2022
GNE myopathy (GNEM) is a late-onset distal myopathy possibly related to sialic acid deficiency. Clinicians in China report the observation of a patient with GNEM…
Research
How reliable are the new myositis-specific antibody kits?
On 13/06/2022
The diagnosis of inflammatory myopathy is most often based on the positivity of autoantibodies in the bloodstream. Clinicians have diagnostic kits for this purpose but…
Research
French experts develop gene panel to diagnose CMT, HSAN and dHMN neuropathies
On 13/06/2022
Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the…
Research
Interferons as a first line in the pathophysiology of dermatomyositis
On 10/06/2022
French researchers have investigated the biological mechanisms involved in dermatomyositis (DM) by comparing muscle stem cells from patients and healthy subjects. They were particularly interested…
Research
Presymptomatic treatment of SMA with four or more SMN2 copies?
On 09/06/2022
Two American teams, one from Boston and the other from New York, have compared their points of view on the thorny question of whether or…
Research
An experimental neuropsychological test for DMD
On 09/06/2022
Based on previous work with mdx mice, the model animal for Duchenne muscular dystrophy (DMD), British researchers have developed a test for humans based on…
Research
A very late-onset form of SMA-LED
On 07/06/2022
Spinal muscular atrophy with lower extremity dominance (SMA-LED) is an ultra-rare distal spinal muscular atrophy initially described in children. Two distinct genes, DYNC1H1 and BICD2,…
Research
Two Malian contributions to a better understanding of CMT in Africa
On 03/06/2022
Africa is, relatively speaking, a kind of terra incognita for neuromuscular diseases in general and Charcot-Marie-Tooth disease (CMT) in particular. Researchers from Mali have recently…
Research
Study confirms uneven geographical distribution of myositis cases in the USA
On 03/06/2022
American researchers analysed the prevalence and typology of myositis in the United States over the period 1986-2011 from a federal patient registry. They were particularly…
Research
Native Americans at higher risk of statin-related autoimmune necrotizing myopathy
On 02/06/2022
Necrotizing autoimmune myopathy (NAM) is a relatively common form of myositis and is diagnosed based on the positivity of autoantibodies to HMGCR and/or SRP protein.…
Research
Searching for the optimal corticosteroid therapy in DMD
On 02/06/2022
Although long-term corticosteroid therapy is a commonly accepted standard of care in Duchenne muscular dystrophy (DMD), its modalities are still debated. An essai international multicentrique…
Research
A therapeutic approach for polyglucosan or glycogen overload diseases
On 02/06/2022
Adult polyglucosan inclusion disease (APBD) and Lafora’s disease are two neurological diseases with an overload of abnormal glycogen (polyglucosan). In the absence of a branching…
Events
Our Myology Centre for Research offers a post-doctoral fellowship in muscle cell biology
On 30/05/2022
We are looking for a highly motivated and creative muscle cell biologist to join our lab. The post-doctoral fellowship position is funded by an EQUIPE…
Research
Almost one third of BMD patients have cognitive or neuropsychiatric disorders
On 30/05/2022
An Italian team conducted a review of the literature published after 1995 on cognitive, behavioural and psychosocial disorders in people with Becker muscular dystrophy (BMD).…