Myology research highlights

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Benefits of wheelchair hockey identified in SMA and DMD

An Italian study of 25 men aged between 18 and 40 with SMA or DMD investigated the effects of playing wheelchair hockey on quality of life, well-being and coping skills.  The results of this study show that:  this sport would have a positive impact on well-being;  the quality of life score is improved by 4.4 … [Read more]

Circulating neurofilaments: a sensitive biomarker in SMA

An American study carried out in 90 children under three with SMA evaluated the interest of quantifying circulating neurofilaments (NF) to detect the disease and assess the response to different therapies. Its results show that:  circulating NF levels are particularly high during the first months period of life in children with SMA and reflect neuronal … [Read more]

A first survey of limb-girdle muscular dystrophy in Mali

The limb-girdle muscular dystrophies (LGMD) continue to be highly heterogeneous neuromuscular diseases, both in clinical and genetic terms. Exploring these disorders in Africa is not an easy process, due to the rarity of these conditions, but also because genetic tests for these conditions are still cruelly lacking on this continent. However, a team of Malian … [Read more]

The assessment of neuromuscular disease patients by physiotherapists is adapting to pandemic conditions

The SARS-CoV-2 pandemic has disrupted hospital organisations, with respect to both care and clinical research. Physiotherapists essentially from the US and the UK report their experiencea and offer practical solutions: several clinical trials have been subject to arrangements allowing remote assessment, with the usual nurses, caregivers and/or physiotherapists acting as intermediaries; sometimes, it is a … [Read more]

A case of necrotising autoimmune myopathy with inflammatory skin lesions

Necrotising autoimmune myopathy (NAM) is caused by immune system deregulation. The inflammatory component is generally very low key, contrarily to the other types of autoimmune myositis. It is, to a large extent, associated with the presence of autoantibodies directed against SRP and/or HMG-CoA Reductase (HMGCR) proteins. An observation from Brazil relates the combination of NAM … [Read more]

A new non-invasive biomarker in SMA

German researchers have developed a new tool intended to visualise and measure muscle loss in patients with SMN1-gene proximal spinal muscular atrophy (SMA). Multispectral optoacoustic tomography (MSOT) is a non-invasive technique requiring a probe that is moved opposite different muscle mass. This technique was tested among 10 healthy volunteers and 10 patients with the different … [Read more]

The iMAX helps to better evaluate motor axonal excitability in the neuropathies

Four European University Hospitals have joined forces to develop a new electrophysiological technique to explore, in a simple and reproducible manner, motor axonal excitability, a useful parameter in the diagnosis and follow up of many neuropathies. Named iMAX, this approach uses standard machines and does not require a specific algorithm. It has been successfully tested … [Read more]

DMD as seen by caregivers: a new measurement tool is available

The emotional weight and the burden of care affect the quality of life of caregivers of patients with Duchenne muscular dystrophy (DMD). An American team has developed a new tool based on a series of items already used for this disease in the context of PROMIS (Patient-Reported Outcome Measurement Information System): it was tested in … [Read more]

BET1, a new congenital muscular dystrophy gene identified

Most congenital muscular dystrophies (CMDs) are caused by abnormalities on a number of recessive genes, many of which relate to glycosylation of alpha-dystroglycan. Based on a sporadic case and two patients from the same family: an international consortium has identified a new gene called BET1; the clinical picture involved a severe form of CMD, combined … [Read more]

How to optimise gene therapy by AAV in humans, from an immunological point of view?

At a time of unprecedented development of AAV-based gene therapies in neuromuscular disease, and in view of the difficulties encountered during therapeutic trials and in a real-life setting, German researchers have reviewed possible ways of improving the coexistence of humans with AAV itself. Among the many avenues mentioned, one should note the benefit of: targeting … [Read more]