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1655 news items
Research
Epilepsy and Duchenne and Becker muscular dystrophies
On 06/05/2022
A meta-analysis of the literature published up to January 2022 on epilepsy and Duchenne (DMD) and Becker (BMD) muscular dystrophies shows an overall prevalence of…
Research
Are patient and physician assessments consistent in FSHD?
On 03/05/2022
• A study compared the self-assessment health questionnaire completed by 131 women and 150 men from the French National Observatory of Facioscapulohumeral Myopathy (FSHD), with the…
Research
3-year study of lower limb muscles in patients with dysferlinopathy using MRI and 31P NMR spectroscopy
On 02/05/2022
Studies of the natural history of neuromuscular diseases are essential to understand the evolution of the diseases and to find relevant evaluation criteria. Dysferlinopathy is…
Research
An inconclusive randomised trial of air-stacking in DMD
On 28/04/2022
Canadian researchers have conducted a randomised trial in 70 patients with Duchenne muscular dystrophy (DMD) to determine the value of the air-stacking technique in interventional…
Research
Early action to prevent obesity in DMD
On 26/04/2022
Dutch researchers investigated how the body mass index (BMI-z) of children and adolescents with Duchenne muscular dystrophy changed over time. For this purpose, they retrospectively…
Research
Searching for biomarkers in Jokela SMA
On 25/04/2022
CHCHD10-related spinal muscular atrophy, or SMAJ, is a very rare disease described by Finnish researchers. It is of mitochondrial origin, mainly affects adults and is…
Research
A possible beneficial effect of gentamycin in plectin-related myopathy
On 22/04/2022
Plectin is one of the intermediate filaments essential for maintaining the architecture of the cell. Its deficiency can lead to various cutaneous or neuromuscular pathologies…
Research
Beware of botulinum toxin injections in SMA
On 21/04/2022
Early forms of SMN1-related proximal spinal muscular atrophy are very often accompanied by swallowing disorders and salivary stasis. Canadian clinicians report the case of a…
Research
What is the value of video-oculography in myasthenia gravis?
On 21/04/2022
Video oculography (VOG) is a simple, non-invasive technique of recording eye movements using digital cameras. It could prove useful in the diagnosis of certain forms…
Research
A new sequencing technique facilitates the diagnosis of CMT linked to the SORD gene
On 19/04/2022
Australian geneticists and clinicians report on the value of the so-called ‘long-length sequencing’ technique for searching for mutations in the SORD gene. The SORD gene…
Research
FSHD: respiratory impairment is usually stable but should be closely monitored in severe progressive forms
On 13/04/2022
In a cohort of 92 people with FSHD1 (n=88) or FSHD2 (n=4), the number of participants with a restrictive syndrome increased from 41 to 48…
Research
Ataluren administered to four women with DMD is well tolerated and stabilises the disease
On 12/04/2022
A retrospective European study analysed data from 4 patients treated with ataluren for a mean of 2.8 years and followed independently for at least 4…
Events
M&M’s – Muscle Monday Seminar – 11 April – Charles A. Gersbach (USA)
On 11/04/2022
Genome Editing for Duchenne Muscular Dystrophy Monday April 11th, 2022 – 2pm-3pm Charles A. Gersbach (Departments of Biomedical Engineering & Surgery, Director, Center for Advanced…
Research
Encouraging preliminary results from the BBP-418 (ribitol) trial in FKRP-related LGMDR9
On 11/04/2022
Limb-girdle muscular dystrophy R9 (LGMDR9) is caused by a deficiency of FKRP. FKRP allows the addition of ribitol-5-phosphate, a molecule made from ribitol, to the…
Research
Digenism is not a rare phenomenon in CMT
On 11/04/2022
High-throughput sequencing studies (NGS for Next-Generation-Sequencing) allow to better specify the molecular signature of this neuromuscular disease characterized by an extreme genetic heterogeneity, but also…
Research
The variations of the MFM32 seen by the patient with SMA
On 08/04/2022
An international consortium including clinicians, patient organization representatives and members of the Roche laboratory conducted a study to assess the relevance and significance of the…
Research
Home spirometry monitoring doubly useful in DMD
On 07/04/2022
Polish specialists report the results of an experimental study involving home measurement of spirometric parameters. The medical team collected these data over a period of…
Research
No benefit to treat dermatomyositis or polymyositis specifically with branched chain amino acids
On 07/04/2022
Amino acids (leucine/valine/isoleucine), codenamed TK-98, could be an adjuvant to conventional corticosteroid treatment of myositis and combat the muscle atrophy associated with it. Japanese researchers…
Research
MuSK-related myasthenia prone to myotonic phenomena?
On 06/04/2022
Myasthenia gravis with positive autoantibodies against the protein MuSK, a muscle-specific tyrosine kinase, is distinct from other forms of myasthenia gravis by the frequency of…
Research
Growing number of gene therapy approaches in CMT
On 06/04/2022
According to 4 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) or axonal (CMT 2D) forms of Charcot-Marie-Tooth disease…