Blog Archives
Electrophysiological studies are useful in differentiating CMS
Researchers from the Institute of Myology analysed electroneuromyography data from 120 patients with congenital myasthenic syndromes (CMS) and compared them with the results of genetic studies: five distinct profiles could be established from the measurement of CMAPs and repetitive stimulation of three nerves (accessory nerve, radial nerve, deep fibular nerve) at a frequency of 3 … [Read more]
Evolution of scoliosis in SMA type II in absence of modifying treatment
To address the lack of data on the course of scoliosis without treatment that could be used as a benchmark for clinical trials or modifying treatment, an Italian team conducted a retrospective study in 84 people with SMA type II. The mean scoliosis angle was 46°, with those aged seven years or less being significantly … [Read more]
Quantitative muscle imaging enables early detection of degenerative lesions in calpainopathies
German researchers compared quantitative magnetic resonance imaging (MRI) data of a set of muscles from 19 patients with calpainopathy and 19 healthy subjects. These data were then analysed in relation to other clinical and functional parameters for correlation: the study targeted eight muscles of the thigh and seven of the leg; selective involvement of the … [Read more]
Institute seminar – Jan 26th – 3pm: Stefan Winblad, PhD. (Sweden)
Cognitive impairments in neuromuscular disorders Thursday, 26 January 2023 – 3pm-4pm Stefan Winblad (University of Gothenburg, Sweden) Amphitheatre C (Ground Floor) 91 Boulevard de l’Hôpital 75013 Paris Hosts : Nathalie Angeard (AIM) and Mario Gomes-Pereira (CRM)
ERN EURO-NMD webinar, January 26th – Prof. Kristl Claeys (Belgium)
Proximal Weakness 26 January 2023 – 16:00 Paris time Pr Kristl Claeys (University Hospitals Leuven, Belgium) Inscription : https://zoom.us/webinar/register/WN_4pKJp8MYRTGiCJKp4K4x1w Organised by EURO-NMD in collaboration with ERN-RND (rare neurological disorders) and European Academy of Neurology.
Motor plate analysis relevant to the diagnosis of seronegative myasthenia
A Japanese team evaluated the value of studying the motor plate in people who were negative for anti-RACh and anti-MuSK antibodies. Twenty people with symptoms suggestive of myasthenia had a neuromuscular biopsy of the biceps brachii. Five people had complement deposition in the motor plate : . four of them also had a decrease in … [Read more]
Myasthenia gravis: the role of thymic macrophages is essential
Myasthenia gravis (MG) is a neuromuscular disease related to the deleterious action of autoantibodies directed against elements of the neuromuscular junction, most often against the acetylcholine receptor (AChR) which is located in the postsynaptic region. The thymus plays a key role in this pathology (AChR-MG) and is characterised by an IFN-β-related type I interferon (IFN) … [Read more]
Anti-fibrotic drug therapies in skeletal muscle diseases
Fibrosis is defined as an excessive accumulation of extracellular matrix. It can affect many organs, including the lungs, liver, heart, skin, kidneys and muscles. Muscle fibrosis is the result of a defective regeneration process, unresolved inflammation or chronic damage. Many muscle diseases have a combination of high levels of fibrosis and muscle wasting and weakness. … [Read more]
Depression and anxiety are common in CMT
An analysis of data from the Italian Charcot-Marie-Tooth (CMT) disease registry shows that: 14% suffer from psychological distress, 10% from depression (compared to 4% and 2% in the general population). 19% take antidepressants or anxiolytics, 12% of them every day. 70% of patients take analgesics or anti-inflammatory drugs, 17% of them at least twice a … [Read more]
Molecular improvement and signs of clinical efficacy in the AOC 1001 trial in DM1
Avidity Biosciences announced in a press release the first results of the MARINA phase 1-2 trial of AOC 1001 in 44 people with Steinert’s disease (DM1) in the US. The product caused only moderate side effects in most participants. However, one person who received the highest dose of the drug candidate experienced serious health problems, … [Read more]
