Myology research highlights
RSS feedTriheptanoin does not improve physical performance in people with Tarui disease
In a double-blind, placebo-controlled crossover trial, a Danish team evaluated the effects of 14 days of tripheptanoin in three people with phosphofructokinase deficiency (PFKD) or type VII glycogenosis (Tarui disease) on exercise heart rate and fatty acid oxidation. The idea was to short-circuit the deficit in energy production by the Krebs cycle resulting from the … [Read more]
Ciprofibrate or bezafibrate combined with choline reduces myocyte damage in the mouse model of megaconic CMD
Choline kinase beta (CHKB) catalyses the first step in the formation of phosphatidylcholine, a major component of eukaryotic cell membranes. Its deficiency leads to the occurrence of megaconium congenital muscular dystrophy. The study of a KO mouse for the Chkb gene shows : no significant alteration in phosphatidylcholine levels whatever the stage of the disease; … [Read more]
Overexpression of BIN1 proves successful in the mouse model of DNM2-related centronuclear myopathy
The interaction of amphiphysin 2 (encoded by the BIN1 gene) and dynamin 2 (encoded by the DNM2 gene) is necessary for membrane fission: amphiphysin 2 triggers the formation of the membrane tubule by inducing membrane bending; dynamin 2 binds to amphiphysin 2 and then causes tubule fission. Overexpression of BIN1 leads to : an improvement … [Read more]
Epilepsy and Duchenne and Becker muscular dystrophies
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 epileptic disorders of 5% (compared to 0.5% to 1.6% in children and adolescents in the general population). – Studies focusing on BMD show a prevalence of seizure disorders of 7%, … [Read more]
Are patient and physician assessments consistent in FSHD?
• 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 physician’s clinical assessment report including the same items. • The analysis was carried out on 39 items separated into seven categories: diagnosis, demography, muscle function, etc. • The comparison of the evaluation … [Read more]
An inconclusive randomised trial of air-stacking in DMD
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 practice. This consists of recruiting, by means of an Ambu® for example, additional ventilatory territories with a view to better oxygenation: of the 66 patients who continued the trial to … [Read more]
Early action to prevent obesity in DMD
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 studied the clinical records of 159 ambulant and non-ambulant patients, some of whom were receiving long-term corticosteroid therapy. Their study showed that : 790 BMI-z scores were analysed against World … [Read more]
Searching for biomarkers in Jokela SMA
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 transmitted in an autosomal dominant mode. The same researchers compared several neuronal and muscular markers in a cohort of 49 patients and in healthy controls: surprisingly, the neurofilament Nfl, a … [Read more]
A possible beneficial effect of gentamycin in plectin-related myopathy
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 (myofibrillary myopathy, muscular dystrophy, congenital myasthenic syndrome). Spanish researchers report the observation of a 30 year old patient with both epidermolysis bullosa and muscular dystrophy, in whom : on the … [Read more]
Beware of botulinum toxin injections in SMA
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 17-month-old child with SMA type I who received several injections into the submaxillary and parotid glands to combat chronic hypersialorrhoea: the child experienced increased hypotonia and regression of modest motor … [Read more]
