Myology research highlights
RSS feedPhysiotherapy treatment for patients with SMA in German-speaking areas
A survey on the profile and practices of physiotherapists treating patients with all types of spinal muscular atrophy was conducted within the SMArtCARE network, which comprises 83 German-speaking reference centres in Germany, Austria and German-speaking Switzerland: two online questionnaires were developed, one by a panel of expert physiotherapists using the Delphi approach, and the other … [Read more]
Ectopic pseudarthrosis in fibrodysplasia ossificans progressiva
Fibrodysplasia ossificans progressiva (FOP) usually presents with episodes of ectopic and disabling ossification. American FOP specialists involved in a natural history protocol for this disease report six cases with an unusual presentation: clinical and radiological data from six patients with FOP, identified in the United States and Germany and presenting with pseudarthrosis, were collated, in … [Read more]
A 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 âSMA-NNEâ, 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 IMNMÂ 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]
