Neuromuscular disorders (in general)
RSS feedA pilot project to detect and manage respiratory problems in pregnant women with neuromuscular disorders
The IT-NEUMA-Preg study was conducted in seven Italian hospitals between 2015 and 2022. Of the 94 pregnant women included : 24 were found to be at risk of developing respiratory disorders likely to have an impact on the pregnancy in progress or in the postnatal period, these women were able to benefit from prevention of … [Read more]
When a smartphone app reliably assesses peak cough flow
A study carried out in Spain on 50 patients suffering from Charcot’s disease (n=26), autoimmune myasthenia (n=9) or genetic myopathy (n=15) shows that sound analysis of coughing, via a smartphone application developed by the Hiroshima Institute of Engineering (Japan) : reliably assesses the peak cough flow (PCF) measured with a flowmeter associated with an oronasal … [Read more]
Treatment of thymoma with immune checkpoint inhibitors increases the risk of muscle toxicity
An analysis of various registries and clinical trial data, carried out by an international team involving researchers from the Institute of Myology, revealed: 1,495 cases of myocarditis with immune checkpoint inhibitors in the World Health Organization’s VigiBase registry, a rare (around 1%) but potentially serious adverse event, a 10- to 30-fold greater risk of ICI … [Read more]
Pre-injection aerobic exercise increases the effectiveness of gene therapy
American researchers have investigated the benefits of a short, low-intensity physical activity session on the efficacy of gene therapy product transduction in mouse models of Barth syndrome. At six weeks, the mice were subjected to 30 min of aerobic exercise (treadmill) immediately followed by an intravenous injection of a dose of gene therapy (AAV9). Four … [Read more]
DREAMS – a new Horizon Europe project brings hope to rare disease patients
The objective of this 5-year project is to discover treatments for 5 rare neuromuscular disorders through a groundbreaking methodology combining Artificial intelligence (AI), stem cells and pharmacological screening. In a groundbreaking endeavour set to span five years, the DREAMS consortium is paving the way for a novel approach to treating neuromuscular diseases. This transformative project … [Read more]
Study identifies key criteria for optimum wheelchair adjustment
A study financed by the AFM-Téléthon sought to identify the main positioning criteria guaranteeing the health and quality of life of adult wheelchair users with type 2 proximal spinal muscular atrophy (SMA type 2) or Duchenne muscular dystrophy (DMD): The expert consensus study was conducted using the Delphi method, with the participation of 74 experts … [Read more]
Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging
Oculopharyngodistal myopathy (OPDM), which is very rare, differs from oculopharyngeal myopathy (OPMD) both genetically and clinically. Japanese researchers sought to identify these differences using magnetic resonance imaging (MRI): 54 patients with one of the three subtypes of OPDM and 57 patients with OPMD were included in a comparative study, OPDM patients had the same MRI … [Read more]
When artificial intelligence helps analyse walking disorders
Japanese researchers have developed an algorithm based on artificial intelligence (AI) to analyse changes in gait in several pathologies: 114 patients, including 45 with neuromuscular pathologies, took part in the study, the application (TDPT-GT) was developed on the iPhone using data supplied by the camera, based on a codified and standardised movement protocol (circular walk, … [Read more]
Metformin may have a protective effect on statin muscle toxicity
This is the finding of a one-year Korean study which compared 4,092 patients on statins + metformin with 8,161 patients on statins alone. Analysis of data from the Korean national health insurance system revealed an incidence of statin-related muscular symptoms of 201.7 per 1000 people on statins alone and 184.3 per 1000 on statins and … [Read more]
US recommendations on the use of immunoglobulins in MNM
Immunoglobulins are still widely prescribed for certain neuromuscular diseases of autoimmune origin, despite the absence of irrefutable scientific evidence. The scarcity of this type of pharmaceutical product has prompted American doctors to reflect on their proper use in neuromuscular diseases: the initial consensus drawn up in 2009 by the American Association of Myology (AANEM) was … [Read more]
