Myology research highlights
RSS feedA French study on the muscular and cardiac toxicity of immune checkpoint inhibitors
French researchers have investigated the adverse effects of immune checkpoint inhibitors, which are latest-generation anti-cancer drugs: their research focused on the myotoxic and cardiotoxic effects of these molecules, data from the national health data system (SNDS) were screened and analysed for the period 2011-2022, based on 172,000 patients treated in France during this period, between … [Read more]
An original analysis of movements in support of neuromuscular diseases
American researchers have developed a technology for diagnosing and monitoring neuromuscular diseases that cause movement disorders: the device is based on video analysis coupled with an artificial intelligence system, all using a mobile phone, this approach allows for more detailed and sophisticated analysis than the simple timed tests currently available (walking or running 10 metres, … [Read more]
There are many lessons to be learned from the national registry dedicated to FSHD
The coordinators and contributors to the French National Observatory for Patients with Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) have taken an interest in unusual forms and presentations of the disease: from the 953 patient files recorded in the database, the authors identified 306 atypical cases, or 19.6% depending on the case, these could be clinical or biological … [Read more]
A wide variety of practices concerning alternative methods of repeated intrathecal injection of nusinersen in SMA
American researchers conducted a meta-analysis of implantable devices designed to facilitate the intrathecal administration of nusinersen, one of three innovative therapies commonly used for SMA: the authors searched various medical literature databases using the PRISMA methodology, eight studies involving a total of 74 patients with SMA were selected, the various devices were always used off-label … [Read more]
Phase I study suggests safety and efficacy of growth hormone and testosterone combination therapy in FSHD
In the Phase I study called STARFISH, researchers at the University of Rochester evaluated the safety and potential efficacy of a combination treatment of recombinant human growth hormone (rHGH) and testosterone in 20 adult men with facioscapulohumeral muscular dystrophy (FSHD). The 19 participants who completed the study did not experience any serious adverse effects. After … [Read more]
Physiotherapy 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]
