Blog Archives
Is there a correlation between cerebral and muscular phenotypes in congenital muscular dystrophy linked to the LAMA2 gene?
Brazilian clinicians have compiled clinical data and brain imaging results from patients with merosine deficiency (congenital muscular dystrophy linked to the LAMA2 gene) with a view to establishing potential correlations between muscle phenotype and brain damage: fifty-two patients were included in the study, the vast majority of whom were non-ambulatory (85%), 19% had significant malformations, … [Read more]
Effects of valproic acid on skeletal muscle in two mouse models of DMD
Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more sensitive to contraction-induced functional loss, which is not related to fatigue. Valproic acid (VPA) is thought to improve serological and histological markers of damage in dystrophin-deficient murine muscles. A French study involving researchers from the Institute tested the ability of VPA to reduce … [Read more]
Description of a French cohort of patients with caveolinopathy
A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort of patients diagnosed with CAV3-related myopathy. twenty-three patients from 16 different families were included in the study, the average follow-up was 24 years, exercise intolerance was the most common symptom, … [Read more]
A founder effect in limb-girdle muscular dystrophy linked to the TRAPPC11 gene
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]
A broader phenotypic spectrum in myopathies linked to the TANGO2 gene
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]
Review of the 2023 session of the Myology Summer School
Andoni Urtizberea reviews the 2023 session of the Summer School of Myology, which was held from 12-16 June 2023 in a hybrid version. This was the 25th edition of this summer school created by the Institute of Myology. What was the number of participants this year? We had 50 registered participants, 22 face-to-face and 28 … [Read more]
A flexible helical foot lift brace that is more effective and better accepted than the traditional posterior splint
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]
Muscle ultrasound in search of standardised protocols
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]
A review of the literature confirms the value of motor function measurement (MFM)
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]
Cure SMA 2023 Conference report
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]
