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1385 news items
Research
A review of serious digestive complications in adults with DMD
On 24/01/2024
Based on four emblematic individual cases of young adults with Duchenne muscular dystrophy (DMD), a British team studied and reviewed life-threatening digestive complications: DMD patients…
Research
More gastrointestinal and genitourinary disorders than expected in FSHD
On 24/01/2024
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at…
Research
Two new cases of congenital myasthenic syndrome linked to the DPAGT1 gene
On 23/01/2024
Limb-girdle congenital myasthenic syndrome (LG-CMS) is a genetically heterogeneous disease characterized by muscle weakness and fatigability. In LG-CMS patients linked to mutations in the DPAGT1…
Research
MELAS: a precision endonuclease to reverse the ratio of mutated to normal mitochondrial DNA
On 23/01/2024
ARCUS endonucleases developed by Precisions BioSciences (Durham, United States) are, unlike ZNF or TALENS nucleases, unique protein components, which means they can be integrated into…
Research
Tamoxifen is well tolerated but does not show significant clinical efficacy
On 23/01/2024
The European phase III multicentre randomised placebo-controlled TAMDMD trial (NCT03354039) evaluated, from May 2018 to October 2020, 20 mg of tamoxifen daily for 48 weeks…
Research
Motor difficulties more pronounced in children with DMD who have associated neurodevelopmental impairment
On 23/01/2024
British and American researchers studied an international cohort of 196 children with Duchenne muscular dystrophy (DMD) in order to compare their motor performance with any…
Research
QT segment shortening induces fatal arrhythmias in primary carnitine deficiency
On 23/01/2024
A French retrospective study of 19 patients with primary carnitine deficiency, aged between 4 months and 28.9 years (median 2.3 years) at diagnosis, found :…
Research
The French version of the PedsQL® quality of life scale adapted to DMD is now validated
On 22/01/2024
Until recently, there was no specific tool for assessing the quality of life of children and adolescents with Duchenne muscular dystrophy (DMD). A group of…
Research
OPMD: Established and emerging biomarkers
On 22/01/2024
In order to gain a better understanding of the natural history of oculopharyngeal muscular dystrophy (OPMD) and with a view to therapeutic trials, Canadian researchers…
Research
A Japanese cohort of patients with myasthenia gravis with MuSK autoantibodies
On 19/01/2024
A Japanese consortium of clinicians reports the clinical and paraclinical data of a large series of patients diagnosed with anti-MuSK antibody-positive myasthenia gravis: 51 patients…
Research
Initial results on the safety of home enzyme therapy in Pompe disease
On 19/01/2024
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered…
Research
Myotubular myopathy: the encouraging lead of PI3KC2β inactivation
On 18/01/2024
In the November 2023 issue of Cahiers de myologie, the team from the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), repeat in…
Research
Preliminary results from the PREMIER trial do not confirm the efficacy of PXT 3003 in CMT 1A
On 18/01/2024
PXT 3003 is a drug candidate developed by Pharnext. It has already been the subject of two clinical trials, launched in 2010 and 2015, and…
Research
Respiratory complications are still common in myasthenic crises
On 18/01/2024
A multicentre study conducted in Germany has provided a better understanding of the determinants of respiratory complications during acute attacks of myasthenia gravis: 12 centres…
Research
Gene therapy for gene-based myopathies: review of the literature and prospects
On 17/01/2024
Gene therapy has emerged as a promising avenue in the search for effective treatments for patients with gene-based myopathies. This review of the dedicated scientific…
Research
Atypical mitochondrial profile in Jokela spinal muscular atrophy
On 17/01/2024
Jokela spinal muscular atrophy (JSMA), named after one of the researchers who identified it, is an ultra-rare variant of SMA not linked to 5q, with…
Research
A comparative study of different motor function assessment scales in DMD
On 17/01/2024
British specialists in the UK-NorthStar network have published comparative data on three motor function assessment tools used in Duchenne muscular dystrophy (DMD): the “NorthStar” scale,…
Research
The benefits of using KAFO orthotics in boys with DMD
On 17/01/2024
A retrospective Japanese study analysed the long-term effects of a standing stimulation programme using KAFO orthoses to support the knees, ankles and feet, applied as…
Research
Towards a consensus to establish new criteria for alveolar hypoventilation in children with neuromuscular disorders
On 16/01/2024
A group of fifteen American experts met to share their experience in the field of alveolar hypoventilation, which is frequently observed in neuromuscular disorders in…
Research
A meta-analysis of side effects associated with innovative treatments for SMA
On 15/01/2024
Chinese researchers have gone through the data published by the American FDA with great care concerning the clinical and biological safety of three drugs commonly…