Myology research highlights
RSS feedThe presence of fever increases the risk of serious respiratory complications in inflammatory myopathies
Chinese researchers analyzed a series of 79 patients with idiopathic inflammatory myopathy, distinguishing between those with prolonged fever at the initial stage of their disease and those who remained apyretic: in the febrile group, there was a higher frequency of cutaneous signs (mechanic’s hand) and respiratory complications (acute interstitial lung disease), all occurring in patients … [Read more]
Heterozygote screening techniques are almost equally effective in SMA
Chinese researchers tested five different laboratory techniques designed to determine the status of the SMN1 and SMN2 genes in 516 reference samples. These techniques included: MLPA, quantitative PCR (qPCR), digital microdroplet PCR (ddPCR), high-resolution analysis (HRM) and capillary electrophoresis PCR (CE PCR); MLPA remains the reference method, but requires considerable laboratory time and resources, the … [Read more]
Improved diaphragmatic impairment in nusinersen-treated SMA
German researchers studied diaphragmatic function in 28 adults with SMA, before and after treatment with nusinersen (Spinraza®) : 10 with SMA type II and 14 with type III, diaphragm thickening and stroke were assessed by ultrasound and correlated with parameters from other respiratory function tests, both parameters improved after treatment. The authors of this work … [Read more]
Towards a better assessment of calcinosis associated with certain cases of dermatomyositis
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]
Extension of the indication for Evrysdi now authorised from birth in Europe
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]
Molecular characterisation of SMA not linked to chromosome 5q remains imperfect
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]
Infantile myasthenia remains ocular and usually evolves favourably
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]
Publication of two major natural history studies in CMT X1
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]
Pompe disease in children: nerve damage impairs functional motor prognosis
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]
Distal hereditary motor neuropathy: identification of the COQ7 gene and coenzyme Q10 supplementation
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]
