Spinal muscular atrophy
RSS feedSMA with 4 copies of SMN2, a form with infantile onset?
A study of data from 268 patients with 4 copies of the SMN2 gene from the SMArtCARE registry showed : an average age of first symptoms of 6.4 years, 55% of patients present their first symptoms before the age of 3 and almost 95% are symptomatic by the age of 18, 3% have never acquired … [Read more]
Opto-acoustic imaging for spinal muscular atrophy
German researchers have applied a technology designed to explore, non-invasively, patients suffering from proximal spinal muscular atrophy linked to the SMN1 gene (SMA) and benefiting from innovative therapies: opto-acoustic imaging is a non-invasive technique which enables variations in signal at the level of muscle tissue to be measured in three dimensions, depending on its trophicity … [Read more]
A Europe-wide analysis of Zolgensma® side effects
Between January 2019 and September 2023, the pharmacovigilance database of the European Medicines Agency collected 661 individual reports of adverse reactions linked to Zolgensma®, representing a total of 2744 adverse reactions. In more than 92% of cases, only Zolgensma® was suspected. More than 50% of adverse reactions were classified as serious: 21% resulted in hospitalisation … [Read more]
A new tool for assessing swallowing disorders in young children with SMA
German clinicians were interested in the swallowing disorders present in young patients with SMN1-related proximal spinal muscular atrophy (SMA), treated or untreated, and relatively unexplored until now: the target population consisted of young children with SMA aged between 0 and 24 months, after using the main existing tools and interviewing a panel of experts, the … [Read more]
A harness to support the mobility of young SMA patients
US physiotherapists have tested a support harness linked to pulleys and a metal frame to facilitate the child’s movements in the three planes of space at home: 32 children with SMN1-related proximal spinal muscular atrophy (with 2 or 3 copies of the SMN2 gene) aged on average 2.9 years took part in this prospective study, … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Prenatal diagnosis is sometimes complicated by the results of high-throughput sequencing.
A team from Dijon reports on a complex situation involving a consanguineous couple whose foetus carried adevelopmental anomaly known as cystic hygroma: a whole exome trio (WES-Trio) study was carried out prenatally to determine the origin, a homozygous truncating variant of the ASCC1 gene was identified, known to give a very rare form of spinal … [Read more]
TOPAZ trial of apitegromab in SMA
The TOPAZ trial tested the safety, tolerability and efficacy of the anti-myostatin apitegromab in SMA over one year in the United States and Europe (but not in France). The 58 participants, aged between 2 and 21 years, received apitegromab intravenously every 4 weeks for one year. The first cohort (open-label) included 23 participants with type … [Read more]
Language development is better in children with SMA treated at presymptomatic stage
Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited from an innovative therapy: the 12 pre-symptomatic children were diagnosed as part of newborn screening, the 36 children had their communication skills, including language, assessed once or twice over time, … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
