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1385 news items
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…
Research
MTM1 gene therapy effective in BIN1-related centronuclear myopathy
On 28/09/2023
In July 2023, a team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire in Strasbourg published the validation of a new therapeutic…
Research
Results of a survey on pregnancy in CMT disease
On 28/09/2023
British team conducted a survey of 92 women with Charcot-Marie-Tooth (CMT) disease to assess their experiences of pregnancy and childbirth (171 in total): the participants…
Research
DMD and newborn screening: results of a two-year American pilot programme
On 28/09/2023
An American team conducted a two-year pilot study in several New York hospitals to assess the feasibility and benefits of newborn screening for Duchenne muscular…
Research
The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population
On 28/09/2023
Chinese researchers have studied the genotype of 181 children with all-types Charcot-Marie-Tooth disease: several techniques were used: search for duplication/deletion of the PMP22 gene, CMT…
Research
DMD: the EMA’s CHMP has ruled against the marketing authorisation and the renewal of the conditional marketing authorisation for translarna
On 26/09/2023
Translarna (ataluren), developed by the laboratory PTC Therapeutics, has until now benefited from a conditional marketing authorisation for Duchenne muscular dystrophy, granted by the EMA…
Research
Identification of a new form of congenital myasthenic syndrome – Interview with Marion Masingue and Stéphanie Bauché
On 25/09/2023
The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has…
Research
The presence of fever increases the risk of serious respiratory complications in inflammatory myopathies
On 25/09/2023
Chinese researchers analyzed a series of 79 patients with idiopathic inflammatory myopathy, distinguishing between those with prolonged fever at the initial stage of their disease…
Research
Heterozygote screening techniques are almost equally effective in SMA
On 25/09/2023
Chinese researchers tested five different laboratory techniques designed to determine the status of the SMN1 and SMN2 genes in 516 reference samples. These techniques included:…
Research
Improved diaphragmatic impairment in nusinersen-treated SMA
On 22/09/2023
German researchers studied diaphragmatic function in 28 adults with SMA, before and after treatment with nusinersen (Spinraza®) : 10 with SMA type II and 14…
Research
Towards a better assessment of calcinosis associated with certain cases of dermatomyositis
On 19/09/2023
Dermatomyositis is accompanied, in a significant number of cases, and most often in the medium to long term, by para-articular calcifications (calcinosis). The pathophysiology of…
Research
Extension of the indication for Evrysdi now authorised from birth in Europe
On 18/09/2023
The European Commission has approved the extension of the marketing authorisation for Evrysdi (risdiplam): Evrysdi (risdiplam) will become available from birth in SMA type I,…
Research
Molecular characterisation of SMA not linked to chromosome 5q remains imperfect
On 18/09/2023
A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in…