Blog Archives
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]
International Myotonic Dystrophy Awareness Day on September 15
15 September 2023 marks the third International Myotonic Dystrophy Awareness Day, aimed at highlighting these rare diseases in order to improve diagnosis, care and support, as well as advancing research. The REDs team of the Myology Centre for Research of the Institute of Myology led by Geneviève Gourdon and Denis Furling, which also includes Guillaume … [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]
The 2023 edition of the “1000 researchers in schools” operation
The 2023 edition of the “1000 researchers in schools” operation will run from 6 November to 8 December. During this period, speakers from laboratories supported by the AFM-Téléthon (Institut de Myologie, Généthon and I-Stem) will be visiting secondary schools across France to explain and popularise advances in research and the medical and scientific revolution underway, … [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]
Vianney, mentor of Telethon 2023, on 8 & 9 December
After Matt Pokora, Soprano and Kev Adams, it’s singer and composer Vianney’s turn to join forces with researchers, families and thousands of volunteers across France in the fight against rare diseases on 8 and 9 December 2023. The ambassador families for the next Telethon reflect the victories won thanks to you, against diseases that were once … [Read more]
Conclusions of a long-term follow-up study in infantile Pompe disease
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]
Initial results on the safety of home enzyme replacement therapy in Pompe disease
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]
