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1385 news items
Research
New tools for assessing the follow-up of two forms of muscular dystrophy
On 25/10/2023
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use…
Research
When smartphones and AI combine to assess myasthenia gravis in real life
On 24/10/2023
UCB and Sharecare conducted a three-month prospective real-life study in the United States involving 82 patients with moderate to severe autoimmune myasthenia gravis. The participants…
Research
A study of drug management of neurobehavioural disorders in DMD
On 24/10/2023
A team analysed the medical records (66 prescriptions) of 52 boys with Duchenne muscular dystrophy (DMD), aged 11 on average, who had received drug treatment…
Research
Significant drug iatrogenicity in late myasthenia gravis
On 23/10/2023
A retrospective study of the medical data of 493 people suffering from autoimmune myasthenia followed by the university hospital centres of Strasbourg, Lyon, Grenoble and…
Research
Results of the phase II-III trial of AMO-02 in congenital DM1
On 20/10/2023
The results of the international REACH-CDM trial involving 56 children aged between 6 and 16 with the congenital form of myotonic dystrophy type 1 were…
Research
Right heart involvement in DMD is a poor prognostic factor
On 19/10/2023
A study of the respiratory and systolic functions of the right ventricle on Doppler echo in 90 young men with Duchenne muscular dystrophy (DMD), with…
Research
Senolytic molecules improve the behaviour of muscle stem cells in DM1
On 18/10/2023
In DM1, muscle stem cells adopt the characteristics of senescent cells, including the secretion of senescence-associated secretory phenotype (SASP). A Canadian team showed that :…
Research
Infantile myasthenia remains ocular and usually evolves favourably
On 17/10/2023
A retrospective study of 859 patients followed by a Shanghai hospital for Myasthenia gravis diagnosed before the age of 14 found : an ocular form…
Research
Tofacitinib effective on dermatomyositis skin lesions, but not really on muscle
On 16/10/2023
A Canadian team conducted a single-center study of 41 people with refractory myositis treated with tofacitinib after failure of four to five immunosuppressants: 23 had…
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…
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…