Collagenopathie
RSS feedDimitrios Kourtzas awarded Master Prize at JSFM 2024 – Interview
Dimitrios Kourtzas has been awarded the Master’s Prize for his research project on collagen VI (COLVI)-related disorders at the JSFM 2024. He just started a PhD under the supervision of ValĂ©rie Allamand, in the âGenetics and pathophysiology of neuromuscular diseases linked to the extracellular matrix and nucleusâ team led by GisĂšle Bonne, at the … [Read more]
Salbutamol is effective in mouse models of collagenopathy
Comme montrĂ© lors de recherches prĂ©cĂ©dentes dans la SMA, le salbutamol est un candidat potentiel pour un repositionnement mĂ©dicamenteux dans les maladies neuromusculaires avec des dĂ©fauts de jonction neuromusculaire. Des chercheurs ont Ă©valuĂ© pour la premiĂšre fois les effets de cette molĂ©cule dans les collagĂ©nopathies grĂące Ă des souris modĂšles chez lesquelles le gĂšne COL6A1 … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-TĂ©lĂ©thon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
 The experience of a French Neuromuscular Disease Reference Centre with patients suffering from collagenopathy
Analysis of the genetic and clinical data from a cohort of 25 patients, children and adults, with defects in the collagen VI (COL6A1-3) genes and followed up at the Marseille Neuromuscular Disease Reference Centre in France showed that : 5 had Ullrich-type muscular dystrophy, 15 had Bethlem myopathy and 5 had an intermediate form; 14 … [Read more]
A novel method to treat recurrent pneumothorax in Ullrich myopathy
American authors report the case of a 19-year-old patient suffering from Ullrich myopathy (collagen VI deficiency) since childhood and who presented a recurrent pneumothorax in a context of long-term non-invasive ventilation. This complication of barotraumatic origin seems quite frequent in this type of myopathy. A conventional treatment with a flexible catheter having proved unsuccessful in … [Read more]
