Myology research highlights

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]

Clinical assessment is an essential step not only in the follow-up of patients with neuromuscular pathology but also in the context of trials, whether natural history studies or therapeutic protocols. A group of 14 experts, mostly American, English and Italian physiotherapists, came up with recommendations: to advance the reliability and validity of these assessments, in … [Read more]

A Chinese team studied the effects of two antisense oligonucleotides targeting a key region of the methylation of the promoter of the SMN2 gene, in cell cultures derived from patients with SMA and in mice with a severe SMA phenotype. The results show that: transcription and overall expression of the SMN protein are improved following … [Read more]