Blog Archives
The Muscle Week 3rd edition will take place from 2 to 8 June
The Institute of Myology and the AFM-Téléthon are launching the 3rd edition of Muscle Week, which will take place from 2 to 8 June. The aim is still to raise awareness of the importance of muscle for overall health and the need to preserve muscle capital throughout life. ‘Our muscles do it all for us, … [Read more]
Axonal neuropathy with hereditary neuromyotonia linked to MPZ
Until now, only recessive mutations in the HINT1 gene have been implicated in a form of axonal neuropathy with hereditary neuromyotonia. A Greek team reports the case of two unrelated men with muscle weakness and stiffness in the lower limbs that appeared around the age of 50 and were associated with neuromyotonic discharges on electromyography. … [Read more]
Idiopathic myositis: an increased and early risk of cardiovascular events in cases of cardiac involvement at diagnosis
The Hôpital Saint-Antoine (Paris) conducted a retrospective study between 1997 and 2020 of 78 patients with idiopathic inflammatory myopathy (myositis). Of these, 42% had dermatomyositis, 23% had antisynthetase syndrome, 15% had overlapping myositis, 14% had necrotising myopathy and 5% had inclusion myositis. Cardiac involvement was present in 15% of patients at the time of myositis … [Read more]
A comparative study of costs between nusinersen and onasemnogene abeparvovec
In association with the Novartis laboratory, which markets the onasemnogene abepavovec or OA (a gene therapy product prescribed for infantile spinal muscular atrophy linked to SMN1 or SMA), Dutch researchers have carried out a comparative study of the costs generated by innovative therapies (nusinersen versus OA): the population studied was infants born in the Netherlands … [Read more]
Spinal cord epidural stimulation proves effective in type III SMA
An initial study evaluated epidural stimulation of the spinal cord in three patients with type III spinal muscular atrophy (SMA). While motor deficits may persist with Spinraza®, Zolgensma® and Evrysdi®, this technique could directly target the dysfunction of the neuronal circuitry of the spinal cord involved in the progression of the disease. The three participants … [Read more]
Researchers from the Institute’s imaging laboratory at the SFRMBM conference
Experts from the Institute’s NMR Laboratory – Spectroscopy Laboratory presented their work at the 7th scientific congress of the Société Française de Résonance Magnétique en Biologie et Médecine (SFRMBM), held in Saint-Malo, France, from 24 to 26 March 2025. Oral communications Monday 24 March • Course – « MR Fingerprinting: Practical Guide » – Benjamin … [Read more]
A candidate biomarker for mitochondrial diseases: serum chitotriosidase 1
Elevation of serum chitotriosidase is a biomarker of lysosomal diseases, particularly in Niemann-Pick disease. Recently, the lysosomal component of mitochondrial diseases has been discussed. Serum chitotriosidase (CHIT1) was measured in 117 people with neuromuscular diseases (90 hereditary, 27 inflammatory), 34 with mitochondrial diseases, 8 with Niemann-Pick type C and 38 controls. It is significantly elevated … [Read more]
A large proportion of MNM patients in favour of telemedicine, despite some reluctance
A French study collected data from 103 adults with a slowly progressive neuromuscular disease who had been using non-invasive ventilation for at least six months, using questionnaires to gain a better understanding of their feelings and experience of telemedicine for respiratory monitoring. Concerning teleconsultation : 73.8% of patients were in favour, 26.2% opposed. 61.2% of … [Read more]
Impaired spermatogenesis in SMA
For the first time, clinicians from the Neuromuscular Diseases Reference Centres looked at the spermatogenesis of 68 men with proximal spinal muscular atrophy (SMA) before starting treatment with risdiplam, a drug likely to cause fertility problems. Of the participants, 36 had type II SMA and 32 had type III SMA, who were followed up between … [Read more]
