Myology research highlights

A consortium of Spanish clinicians reports the clinical and biological data of a group of patients from the gypsy community diagnosed with autosomal recessive limb-girdle muscular dystrophy (LGMD) linked to the TRAPPC11 gene: the same pathological variant (c.1287+5G>A) of the TRAPPC11 gene was identified in the homozygous state in these 25 patients, to the picture … [Read more]

Catalan researchers report the observation of a 40-year-old patient diagnosed with TANGO2-related myopathy (deletion extending from exons 3 to 9). This neuromuscular disorder is ultra-rare, transmitted on an autosomal recessive mode, and generally classified as a mitochondrial cytopathy. The patient presented with muscular signs (including an episode of severe rhabdomyolysis at the age of 24 … [Read more]

A team from Toulouse compared the efficacy and acceptability of a new carbon fibre helical ankle-foot orthosis with a polypropylene posterior splint in 20 people with unilateral foot drop: eleven following sciatic injury, one with a sequela of acute anterior poliomyelitis, two with Charcot-Marie-Tooth disease and six with facioscapulohumeral muscular dystrophy. Functional gain was assessed … [Read more]

A growing number of teams are using muscle ultrasound either for diagnostic purposes or as part of a follow-up. Except in France, where this tool is not very popular. However, these practices are hampered by a lack of standards, which makes it difficult to compare the results obtained. Seventeen international experts in the field shared … [Read more]

The Lyon-based researchers who developed and validated the Motor Function Measure (MFM) carried out a literature review to assess the qualities of their scale in the context of neuromuscular diseases, where the impact of innovative therapies is a new factor. Forty-nine articles referring to the use of the MFM were compiled, They concerned the two … [Read more]

A number of clinical trial results were announced at the Cure SMA Research & Clinical care conference, held in Orlando (USA) from 28 to 30 June 2023: the RESPOND trial revealed additional benefits of Spinraza® at six months after treatment with Zolgensma® in 29 participants; the FIREFISH trial confirmed the good tolerability and efficacy of … [Read more]

In the context of ventilatory assistance in neuromuscular diseases and the problems it poses, French specialists have undertaken a meta-analysis of the literature: sixteen studies were selected, corresponding to 176 patients, including 113 with neuromuscular diseases, In particular, data on non-invasive ventilation and biological parameters such as the measurement of oxygen and carbon dioxide in … [Read more]

SMA is traditionally defined by almost exclusive involvement of the second motor neuron. Canadian clinicians compiled and analysed the literature on brain imaging in this disease with the aim of assessing possible additional involvement of the central nervous system. Twelve articles were retrieved from the PubMed and EMBASE databases. All the studies involved 39 patients … [Read more]

An international consortium of researchers coordinated by a Latvian team has studied the relevance of dosing neurofilaments in the blood of patients with Charcot-Marie-Tooth (CMT) disease: one hundred and one CMT patients and 64 healthy subjects were included in the study; of these, 73 patients and 28 controls were evaluated at least twice, three years … [Read more]

The question of determining the severity of autoimmune myasthenia has become central since the arrival of innovative therapies on the market. Methodologists working with the pharmaceutical company UCB have focused on the assessment parameters that are most relevant to the patients themselves (patient-related outcome measures, or PROMs): These PROMs were compared with conventional functional scores … [Read more]