Myology research highlights

American cardio-paediatricians gathered within the ACTION network (Advanced Cardiac Therapies Improving Outcomes Network) were questioned about their management practices concerning DMD: 31 specialists from 23 separate institutions agreed to participate in the survey; while access to cardiac MRI and Holter monitoring is uniformly possible across the United States, their frequency and indications vary significantly from … [Read more]

Chinese researchers associated with the Beijing Genomics Institute (BGI) compared three molecular biology techniques to detect the number of copies of the SMN1 gene in order to confirm the genetic diagnosis of spinal muscular atrophy (SMA): 478 DNA samples were studied simultaneously in quantitative PCR (qPCR), NGS and MLPA, the latter technique serving as a … [Read more]

Myositis ossificans or fibrodysplasia ossificans progressive (FOP) is an ultra-rare genetic disease associating progressive ankylosis and malformative bone abnormalities. American researchers have identified several biomarkers of the disease from the study of the plasma of 40 patients carrying the most frequently encountered mutation (R206H) and 40 control subjects: adiponectin and tenascin levels were highly correlated … [Read more]

A team of British and Swedish researchers calculated the life expectancy of persons with Duchenne muscular dystrophy (DMD) from individual survival data extracted from survival curves published up to July 2020. The systematic bibliographic search identified 14 publications that gathered data from 2283 patients with DMD, including 1409 deceased, from North and South America, Europe … [Read more]

Oculopharyngodistal myopathy (OPDM) is an ultra-rare autosomal dominant neuromuscular disease in which abnormal CGG-like nucleotide repeats have been identified in three genes (NOTCH2NLC, GIPC1, LRP12). Japanese researchers have studied the presence of p62-labeled nuclear inclusions in skin samples: these inclusions are similar to those described in intranuclear inclusion disease (NIID), which doesn’t include myopathy; in … [Read more]

A study compared two Fitbit® smartwatch models and medical devices (accelerometer, heart monitor, etc.) frequently used in clinical trials, in 110 people with neuromuscular diseases: Fitbit® wristbands are well tolerated and more economical. They are adequate for evaluating and monitoring physical activity in daily life. The authors point out that there are deviations from the … [Read more]

An American team studied the impact of muscle atrophy and corticosteroid therapy on the immune response to messenger RNA (mRNA) vaccines against SARS-CoV-2 in 14 people aged between 20 and 60 with neuromuscular diseases (MNM). Participants were mostly nonambulant (13/14) and had Duchenne or Becker muscular dystrophy (9/14), SMN1-related proximal spinal muscular atrophy (SMA) (1/14) … [Read more]

Italian clinicians have compiled data from the literature published between 2000 and 2021 concerning the technological assessment tools used, routinely or during trials, in neuromuscular patients. Four areas are concerned: gait assessment, continuous monitoring of physical activity, assessment of upper limb function and assessment of muscle strength. Some of these tools are more particularly suited … [Read more]

Kennedy’s disease is a degenerative disease transmitted in a X-linked recessive mode. The case of two sisters who both inherited two pathological alleles of the gene encoding the androgen receptor (AR) is reported by Norwegian researchers : both sisters had received a pathological allele from their mother, herself a transmitter, and another pathological allele from … [Read more]

Due to the Covid-19 epidemic, 31 patients with Pompe disease had to stop their treatment with enzyme replacement therapy (ERT), alglucosidase alfa or Myozyme®, in eight neuromuscular reference centres in France. Analysis of follow-up data from these patients, compiled in the French Pompe disease registry, shows that: an interruption of ERT, even for only two … [Read more]