Blog Archives
Release of the 66th newsletter from the Institute
Final result of 89,189,384 euros for Telethon 2017, thank you! The 31st Telethon edition reaches a final result of 89,189,384 euros. On 8th and 9th December 2017, the Telethon enthralled the public throughout France. See you on December 7th and 8th 2018! In February 1958, a handful of parents who were outraged by the ignorance … [Read more]
Post-doctoral position available at Myology Institute, Research Center, Paris
Within the EU-H2020 Solve-RD project “Solving the unsolved Rare Diseases” a postdoctoral position is available in the team of Gisèle Bonne (Centre of Research in Myology, Team 1, Genetics, Pathophysiology & Therapeutic approaches of muscle diseases). The position is available from June 2018. > Download the complete advertising
The Wilmington Robotic Exoskeleton improves upper extremity function in patients with DMD
Patients with Duchenne muscular dystrophy in their second decade of life present with decreased upper extremity strength and active range of motion (AROM) that limit activities of daily living (ADLs). Here, the authors evaluated the ability of the Wilmington Robotic Exoskeleton (WREX) to improve AROM and independence with ADLs. A retrospective chart review of … [Read more]
Updating the classification of inherited neuropathies
The continual discovery of disease-causing gene mutations has led to difficulties in the complex classification of Charcot-Marie-Tooth diseases (CMT) that needs to be revised. The authors of the present study have recently published a proposal to update the classification of inherited neuropathies. Following positive feedback from the proposal, they performed an internet survey (from … [Read more]
Correlation between SMA phenotype and SMN2 copy number
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are classified into type I (never sit), II (never walk unaided) or III (achieve independent walking abilities). SMN2, the highly homologous copy of SMN1, is considered … [Read more]
Muscle ischaemia associated with NXP2 autoantibodies: a severe form of JDM
The aim of this study was to explore without a priori hypotheses, whether myositis-specific autoantibodies (MSAs) are associated with distinct clinical-pathological changes and severity in a monocentric juvenile dermatomyositis (JDM) cohort. Clinical, biological and histological findings from 23 JDM patients were assessed. Twenty-six histopathological parameters were subjected to multivariate analysis. The results show that … [Read more]
The 31st Telethon edition reaches a final collection of 89,189,384 euros
On 8th and 9th December 2017, the Telethon enthralled the public throughout France. Thanks to the Telethon, Genethon developped 8 gene therapie medicines. They are now being tested on patients affected by rare muscle, blood, vision and immune deficiency conditions. The France Televisions networks join AFM-Telethon in expressing their thanks. Thanks to Zazie, to our … [Read more]
Long-term reduction of DNM2 following a single intramuscular injection of AAV-shRNA
Myotubular myopathy, or X-linked centronuclear myopathy, is a severe muscle disorder representing a significant burden for patients and their families. It is clinically characterized by neonatal and severe muscle weakness and atrophy. Mutations in the myotubularin (MTM1) gene cause myotubular myopathy, and no specific curative treatment is available. The authors of the present study … [Read more]
Anti-myostatin: an effectiveness depending on the importance of the muscular damage
The team of J. Dumonceaux has shown that anti-myostatin therapy is effective if the level of myostatin is sufficient. Anti-myostatin molecules inhibit the myostatin pathway: myostatin is a protein secreted by muscle that naturally inhibits muscle growth. Several therapeutic approaches aimed at increasing muscle mass and targeting myostatin have been studied in clinical trials. However, … [Read more]
Telehealth applications for outpatients with neuromuscular or musculoskeletal disorders
Telehealth describes the provision of medical services remotely through technology, and may enhance patient access to specialty care services. Although teleneurology has expanded widely since the introduction of telestroke in 1999, telehealth services for outpatients with neuromuscular or musculoskeletal disorders are less widespread. In this narrative review, the authors describe the current technology, applications, outcomes, … [Read more]
