Myology research highlights
RSS feedPublication 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]
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]
The value of assessing sarcopenia in paediatric patients with neurological pathology
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]
The French Pompe disease registry turns 18
Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease. In 2022, thanks to the collaboration of the 31 reference centres for rare neuromuscular and metabolic diseases, the register includes 210 patients with the adult form of the disease. One hundred and seventy-seven received enzyme … [Read more]
DMD: positive results from Viltolarsen confirmed over four years
The first publication of the results of the phase II clinical trial of Viltolarsen in 16 boys with DMD aged between 4 and 9 years in May 2020 showed that it induced a significant increase in the overall level of dystrophin in the muscle, accompanied by functional improvement after six months of treatment. In this … [Read more]
Facial recognition to help assess myasthenia gravis patients
Dutch researchers have investigated innovative techniques for objectively and automatically assessing facial muscle deficits in patients with myasthenia gravis : data from 70 myasthenia patients were compared with data from a group of healthy subjects, the analysis was based on protocolised video recordings of facial movements to which two distinct methods were applied, one using … [Read more]
Retinal damage in ALS and Kennedy disease
Italian researchers studied patients with amyotrophic lateral sclerosis (ALS) or Kennedy disease for one year to determine the prevalence of associated retinal anomalies: the clinical and paraclinical data of 30 patients with ALS and 37 with Kennedy disease were compiled and compared with a control group, the thickness of the peripapillary retinal nerve layer (pRNFL) … [Read more]
