Myology research highlights
RSS feedA scale adapted for newborns with SMA
American and Italian clinicians have developed and tested a new scale that is eagerly awaited in the context of the widespread use of neonatal screening for spinal muscular atrophy (SMA) around the world: this scale, called ‘SMA-NNE’, is largely inspired by an existing tool, the Hammersmith Neonatal Neurological Examination (HNNE), and items from a module … [Read more]
Tools for screening asymptomatic hypokalaemic periodic paralysis
Spanish clinicians conducted a clinical, imaging and electrophysiological study on a cohort of patients with hypokalaemic periodic paralysis from the same region and carrying the same CACNAS1 gene mutation (p.R528). This study involved 8 symptomatic men, 3 asymptomatic women and 9 healthy volunteers. It redefines the diagnostic criteria for hypokalaemic periodic paralysis linked to the … [Read more]
Neurodevelopment and mental health in children with symptomatic or presymptomatic SMA
Italian clinicians undertook a large neuropsychological and neurobehavioural study in children with SMN1-related proximal spinal muscular atrophy (SMA) type 1 who had received innovative therapy at a symptomatic (25) or presymptomatic (6) stage: the cohort studied included children aged 2 to 10 years, they were assessed by a multidisciplinary team using several criteria, parents had … [Read more]
An atypical case of acetyl-CoA dehydrogenase deficiency reported in France
Clinicians at Caen University Hospital and Necker-Enfants Malades Hospital in Paris report the case of a 33-year-old female patient whose history was confusing in several respects: it all began with psychiatric symptoms in the form of severe eating disorders, followed a few months later by the onset of muscle weakness and a concomitant elevation in … [Read more]
Neurodevelopmental disorders quantified in DMD
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders in these patients. A retrospective analysis of the clinical characteristics and psychological assessments of 264 boys (aged six years or older) and men with DMD yielded the following results: nearly … [Read more]
The added value of artificial intelligence in myasthenia gravis remains to be confirmed
Taiwanese researchers conducted an exhaustive analysis of the literature on artificial intelligence (AI) tools in the context of predictive factors at certain stages of myasthenia gravis: a PRISMA-type approach was used to select 11 studies, which focused on prediction tools based on machine learning algorithms, with particular attention paid to admission to intensive care, length … [Read more]
An alternative to statin use in cases of immune-mediated necrotising myopathy
Italian clinicians report the results of a study on the use of a new molecule, bempedoic acid, which has lipid-lowering properties but does not carry the risk of developing immune-mediated necrotising myopathy (IMNM): 10 patients with IMNM positive for anti-HMGCR autoantibodies were included in an open-label study. All had received prednisone and immunosuppressants to control their … [Read more]
A case immune-mediated necrotising myopathy associated with tuberculosis
An Italian team reports a case of autoimmune necrotising myopathy occurring in the context of active tuberculosis in a 38-year-old migrant: the patient, originally from Bangladesh, had arrived in Italy via the Balkan route, he presented with the classic signs of active pulmonary tuberculosis but also with severe myalgia that had been developing for several … [Read more]
A plea for neonatal screening for DMD
In a comprehensive article, American specialists analyse practices and prospects for newborn screening for Duchenne muscular dystrophy in the United States: this screening is technically feasible and is based on creatine phosphokinase (CPK) testing in the first days of life, confirmed by DMD gene testing, from August 2023, the Federal Committee responsible for proposing recommendations … [Read more]
Improvement in motor function with Evrysdi® in presymptomatic SMA
Approved for spinal muscular atrophy (SMA), the efficacy of Evrysdi® in presymptomatic forms remained uncertain. In the international RAINBOWFISH open-label trial, 26 genetically diagnosed infants received Evrysdi® for two years within the first six weeks of life before the onset of symptoms. After 12 months of daily oral treatment, 81% of infants could sit unaided … [Read more]
