Blog Archives
MYOLOGY 2024: registration and submission of abstracts now open
The website for the 8th edition of the international congress dedicated to neuromuscular science MYOLOGY 2024, to be held in Paris from 22 to 25 April 2024, is now open. Abstracts can be submitted on the website until 30 November 2023. Registration is also open at the “early bird” rate until 31 December 2023. … [Read more]
A large series of patients with VCP gene-related myopathy studied with muscle imaging
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 in patients with VCP myopathy, a myopathy characterized by inclusion bodies and, inconstantly, Paget’s disease and/or fronto-temporal dementia : the images of 80 patients from the large international cohort of … [Read more]
“Fête de la Science” from 9 to 16 October
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 by the French Ministry of Higher Education and Research, to enable everyone to discover the world of science, and meet the men and women who make today’s science possible. For … [Read more]
Successful heart transplant in a child with congenital titinopathy
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 neonatal hypotonia and respiratory disorders attributed to congenital myopathy unrelated to the MTM1 and RYR1 genes, Severe restrictive cardiomyopathy appeared from the age of 3, and led to the suggestion … [Read more]
Biomarkers to monitor treated SMAs
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 their relevance to innovative therapies: Italian scientists have identified changes in protein profiles in the CSF of ten type III SMA patients treated for two years with nusinersen, a Romanian … [Read more]
Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
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 abductor strength is the main determinant of locomotor performance, gait stability and pelvic stability. Hip flexor strength is critical for knee and hip kinetics during gait. The duration of unipodal … [Read more]
Muscle imaging can show lesions in periodic paralysis
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 the lower limbs of 45 patients diagnosed with PP: 17 patients had a mutation in a calcium channel gene, 16 in a sodium channel gene and 12 in a potassium … [Read more]
An unusual case of dermatomyositis with muscle hypertrophy and neuromyotonia
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 consisted of a muscle deficit that appeared a few weeks after a rash on the face, the work-up revealed hyperCKemia at 4,000 IU/l, positive autoantibodies to Mi2, inflammatory infiltrates and … [Read more]
Description of an Iranian cohort of patients with megaconium myopathy
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 clinical and biological data of 13 patients diagnosed in Iran in recent years: the 13 patients came from 11 consanguineous families, The phenotype invariably combined motor disorders of varying intensity, … [Read more]
Description of a Dutch cohort of patients with LAMA2-related muscular dystrophy
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 myopathy). Dutch clinicians report the clinical and biological data of 27 patients: Twelve had a very early onset but survived into adulthood, The median age of this single-centre cohort was … [Read more]
