Myology research highlights
RSS feedPompe’s disease: beneficial effect of long-term physical activity, especially if training is personalised
The physical fitness of 19 people with moderate Pompe’s disease who took part in a 12-week personalised training programme in the Netherlands in 2011 was compared with that of 10 similar people, in terms of age and duration of illness. Sixteen were considered active according to WHO criteria: 9 participants continued the 2011 exercise programme, … [Read more]
The largest cohort of disorders associated with fetal anti-acetylcholine receptor antibodies
A large international collaboration has reported 46 cases associated with maternal anti-fetal acetylcholine receptor antibodies (fRACh), the largest cohort ever described to date. The 30 mothers had anti-fRACh and anti-RACh antibodies, and half of them had not been diagnosed with myasthenia prior to pregnancy. There were seven terminations of pregnancy for severe congenital multiple arthrogryposis, … [Read more]
McArdle’s disease: what impact on patients’ social participation?
The EUROMAC registry brings together information from 269 people with McArdle’s disease from eight European countries, including France, as well as the United States. A study based on the responses of 73% of these patients sheds new light on their disease in real life: 67% of respondents said they were working, 29% had had to … [Read more]
Compliance with non-invasive ventilation is not related to respiratory parameters in DM1
Dutch researchers studied compliance with non-invasive mechanical ventilation (NIV) prescribed as part of respiratory management for patients with Steinert’s disease (DM1). 101 patients who had been prescribed this equipment were monitored for at least one year, at the end of the year, 58 of them showed little or no compliance, these results being in line … [Read more]
Low-carb ketogenic diet and McArdle’s disease: results of an international survey
An international survey was conducted among 183 people with McArdle’s disease in 18 countries, including France, to gather their experiences with the low-carbohydrate, high-fat ketogenic diet. The results show that : a third of participants have tried this diet, of these, almost 90% reported positive effects on McArdle’s disease symptoms (exertional intolerance, muscle pain and … [Read more]
Duchenne muscular dystrophy: the possibility of necroptosis inhibition
In the dystrophin-deficient muscle of mouse, rat and dog models of Duchenne muscular dystrophy, there is activation of necroptosis, RIPK1 and RIPK3, key signaling molecules of programmed necrosis, as well as MLKL, a downstream effector of RIPK1 and 3. However, two studies have shown that inhibition of necroptosis can lead to impaired myogenesis and muscle … [Read more]
A CRISPR-Cas9 system induces multiple exon skipping in DMD
Genome editing is an emerging approach to the targeted treatment of Duchenne muscular dystrophy (DMD). Japanese researchers have conducted experiments using the CRISPR-Cas9 tool in induced pluripotent stem cells (iPSc): unlike other genome-editing tools that target one exon of the DMD gene, the system used can skip many exons at once, up to a total … [Read more]
Myopathology of DMD reveals intrinsic senescence of muscle stem cells
A Franco-Italian team has studied the regeneration processes, fibro-adipogenic precursors and muscle stem cells in 24 muscle biopsies from patients with Duchenne muscular dystrophy (DMD): by establishing the myopathological trajectory of DMD, she demonstrated the existence of an increase in fibro-adipogenic cells parallel to a decrease in muscle regenerative capacity; this is correlated with impaired … [Read more]
Corticosteroids improve the efficacy of preventive treatment of left ventricular failure in DMD
A retrospective study of the occurrence of left ventricular damage in 455 boys with Duchenne muscular dystrophy, born between 1982 and 2009 and followed for an average of 10 years with a mean age at last check-up of 14.8 years shows that : 40.7% had left ventricular failure (ejection fraction less than 55% or shortening … [Read more]
A large-scale natural history study of Becker’s myopathy
The records of 225 Japanese patients with Becker’s myopathy, with an average age of 31, were examined to gain a better understanding of the natural history of this disease. The results show that : muscular dystrophy begins with muscular symptoms, hyperCKemia and central nervous system disorders, 53.8% of patients have walking difficulties, with wheelchair use … [Read more]
