Myology research highlights

Dermatomyositis is accompanied, in a significant number of cases, and most often in the medium to long term, by para-articular calcifications (calcinosis). The pathophysiology of calcinosis remains poorly understood. American researchers at the NIH studied it quantitatively and qualitatively using whole-body CT scans: 31 patients were included in this prospective study, including 14 adults with … [Read more]

The European Commission has approved the extension of the marketing authorisation for Evrysdi (risdiplam): Evrysdi (risdiplam) will become available from birth in SMA type I, II, III or for those with one to four copies of SMN2 (previously it was only available from the age of 2 months), This decision is based on the encouraging … [Read more]

A very small percentage of patients with a phenotype compatible with spinal muscular atrophy are found not to have homozygous deletions or point mutations in the SMN1 gene (non-5q SMA). Clinicians and biologists from five French Neuromuscular Reference Centres shared their experience in this field: 24 patients with non-5q SMA from nine families were documented … [Read more]

A retrospective study of 859 patients followed by a Shanghai hospital for Myasthenia gravis diagnosed before the age of 14 found : an ocular form in 97.8% of cases, which only generalized in 14% of patients; 21.7% were in stable complete remission, 15.3% in pharmaceutical remission, and 42% of patients had achieved minimal manifestation status … [Read more]

The Inherited Neuropathies Consortium (INC) has published the medical and genetic data of 387 patients with Charcot-Marie-Tooth X1 disease (linked to the GJB1 gene), followed for at least seven years. One hundred and fifty-four variants of the GJB1 gene were analyzed. No genotype-phenotype correlation was found, contrary to what was thought in the first small-scale … [Read more]

A French team carried out a retrospective study of 29 children with infantile or juvenile forms of Pompe disease. Ten children with the infantile form died at a median age of 21 months. Of the remainder, four had the juvenile form, 15 the infantile form, four of whom were started on enzyme replacement therapy (ERT) … [Read more]

Until now, the COQ7 gene has only been implicated in very severe coenzyme Q10 deficiency, for which coenzyme Q10 supplementation has stabilized the disease in some patients. In an article published in December 2022, researchers at the Institut NeuroMyogène identified abnormalities of the COQ7 gene in 3 patients suffering from distal hereditary motor neuropathy with … [Read more]

In an article published in May 2023, a French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020: 50 patients (78%) received enzyme replacement therapy with alglucosidase alfa, 10 of whom had to stop it because it was ineffective. 37 patients (58%) died … [Read more]

A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered in the Netherlands since 2008. The results were published in May 2023: the study analysed data from 116 patients (including 82 with the adult form) receiving a home infusion of … [Read more]

Muscle wasting, or sarcopenia, is most often associated with physiological ageing. In an original experiment, South Korean researchers tried to measure it in children, adolescents and even young adults (up to the age of 25) suffering from various neurological pathologies: 121 patients, including 56 boys, took part in the study, with 72 suffering from cerebral … [Read more]