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2414 news items
Research
A large series of patients with VCP gene-related myopathy studied with muscle imaging
On 11/10/2023
An international consortium of clinicians coordinated by the Barcelona Neuromuscular Center has published the results of the analysis of nuclear magnetic resonance (MRI) images acquired…
Events
“Fête de la Science” from 9 to 16 October
On 10/10/2023
This year’s “Fête de la Science” will take place from 9 to 16 October in France. Created in 1991, this event is organized every year…
Research
Successful heart transplant in a child with congenital titinopathy
On 10/10/2023
Swiss and British researchers report the case of a 13-year-old adolescent who required a heart transplant at the age of 5: he initially presented with…
Research
Biomarkers to monitor treated SMAs
On 09/10/2023
Three separate groups of researchers have published the results of their work on biomarkers present in the cerebrospinal fluid (CSF) of patients with SMA, and…
Research
Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
On 08/10/2023
Compared with 20 healthy controls, the gait pattern and locomotion performance of 18 people with late-onset Pompe disease were found to be significantly impaired. Hip…
Research
Muscle imaging can show lesions in periodic paralysis
On 08/10/2023
Periodic paralysis (PP) is an ultra-rare muscle channelopathy characterized by episodes of transient, sometimes prolonged, motor deficits. British researchers conducted a muscle imaging study of…
Research
Description of a Dutch cohort of patients with LAMA2-related muscular dystrophy
On 06/10/2023
Pathological variants in the LAMA2 gene encoding merosine cause very early onset muscular dystrophy (CMD), but not always (then they are clinical pictures of limb-girdle…
Research
An unusual case of dermatomyositis with muscle hypertrophy and neuromyotonia
On 06/10/2023
Texas clinicians report the highly atypical case of a 65-year-old patient initially diagnosed with dermatomyositis on the basis of classic disease criteria: the initial picture…
Research
Description of an Iranian cohort of patients with megaconium myopathy
On 05/10/2023
Megaconial myopathy is an ultra-rare neuromuscular disease caused by recessive mutations in the CHKB gene encoding an enzyme involved in lipid transport. Researchers report the…
Research
The French experience of intolerance to ERT in certain patients with Pompe disease
On 04/10/2023
Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of…
Research
Japanese study identifies cardiac determinants of sudden death in DM1
On 04/10/2023
Sudden death is a not uncommon event in the evolution of patients suffering from myotonic dystrophy type 1 (DM1). Japanese researchers have analysed the clinical,…
Research
A simple algorithm for predicting respiratory impairment in myotonic dystrophies
On 04/10/2023
German researchers have developed a method to better detect ventilatory disorders in patients with DM1 or DM2 myotonic dystrophy. The method is based on a…
Research
Myotubular myopathy: in zebrafish, hepato-biliary damage is due to loss of function of myotubularin
On 03/10/2023
A North American team has characterised the liver phenotype of a zebrafish model of myotubular myopathy. The loss-of-function anomaly in mtm1 results in impaired bile…
Research
DMD: Canadian respiratory data in real life
On 03/10/2023
Using data from the Canadian Neuromuscular Disease Registry, collected by 36 centres, a cross-sectional study of real-life respiratory data from 323 patients with Duchenne muscular…
Research
Sporadic nemalin myopathy with atypical skin involvement responding to immunoglobulins
On 03/10/2023
A Danish team presents the case of a 59-year-old woman with atypical sporadic late-onset nemaline myopathy (SLONM): skin manifestations (redness and phlyctenes on the extremities…
Research
An unusual phenotype in a case of Sheldon-Hall syndrome
On 02/10/2023
Sheldon-Hall syndrome (SHS) is an ultra-rare genetic disease usually characterised by congenital arthrogryposis of autosomal dominant transmission. Researchers at the neuromuscular reference centre at the…
Research
An original case of congenital titinopathy in an adult
On 02/10/2023
Researchers at the Créteil Neuromuscular Reference Centre (Henri-Mondor University Hospital) report the observation of a 36-year-old patient with a congenital onset of titinopathy: initial hypotonia…
Research
Characteristics of and response to treatment for double seronegative myasthenia gravis
On 02/10/2023
A retrospective Canadian study of 80 people with double-seronegative myasthenia for anti-RACh and anti-MuSK antibodies, compared with 73 people with myasthenia for anti-RACh antibodies, showed…
Research
Study of the cardiac fibroblast phenotype derived from IPS stem cells from patients with DMD
On 02/10/2023
A European consortium of researchers has studied the biological and molecular characteristics of cardiac fibroblasts generated from induced pluripotent stem cells (IPSCs) from Duchenne muscular…
Research
How scoliosis and scoliosis surgery affect lifespan in DMD
On 29/09/2023
A retrospective study carried out between January 2000 and August 2022 by Scottish surgeons on 113 patients with Duchenne muscular dystrophy (DMD) showed that 43…