Blog Archives
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, OPDM and an overlapping disease
Noncoding repeat expansions cause various neuromuscular diseases, including myotonic dystrophies, fragile X tremor/ataxia syndrome, some spinocerebellar ataxias, amyotrophic lateral sclerosis and benign adult familial myoclonic epilepsies. Inspired by the striking similarities in the clinical and neuroimaging findings between neuronal intranuclear inclusion disease (NIID) and fragile X tremor/ataxia syndrome caused by noncoding CGG repeat expansions in … [Read more]
I-Motion is recruiting a Physiotherapist
Since its creation in 1996, the goal of the Institute of Myology is to promote the existence and recognition of myology by being a center of expertise dedicated to muscle. Its activity comes from the diagnosis, management and follow-up of neuromuscular patients, but also includes an applied and fundamental clinical research platform. Within the Institute … [Read more]
Longitudinal study of upper extremity reachable workspace in FSHD
Facioscapulohumeral Dystrophy (FSHD) results in slowly progressive strength impairment, especially the upper extremities. Recent discoveries regarding pathophysiology have led to exciting novel therapeutic strategies. To further facilitate drug development, improved FSHD outcome measures that are functionally-relevant and sensitive to longitudinal change will be critical. Recently, a motion sensor (Kinect)-based upper extremity outcome called ‘reachable workspace’ … [Read more]
Reproductive pattern in women with IIM – a population-based study
The objective of this study was to examine the reproductive pattern of women with idiopathic inflammatory myopathy (IIM) compared to the general population. Population-based, nationwide registers were used to identify offspring of women with IIM and comparators. Women with IIM in general had similar reproductive pattern as the comparators whereas those diagnosed between 26 and … [Read more]
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of SMARD1
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a genetic motor neuron disease affecting infants. This condition is caused by mutations in the IGHMBP2 gene and currently has no cure. Stem cell transplantation is a potential therapeutic strategy for motor neuron diseases such as SMARD1, exerting beneficial effects both by replacing cells and … [Read more]
NCALD antisense oligonucleotide therapy in addition to nusinersen further ameliorates spinal muscular atrophy in mice
Spinal muscular atrophy (SMA) is a neuromuscular disease causing the most frequent genetic childhood lethality. Recently, nusinersen, an antisense oligonucleotide (ASO) that corrects SMN2 splicing and thereby increases full-length SMN protein, has been approved by the FDA and EMA for SMA therapy. However, the administration of nusinersen in severe and/or post-symptomatic SMA-affected individuals is insufficient … [Read more]
7th edition of the operation “1000 researchers in schools in France and abroad”
The experts of the Institute of Myology are mobilizing again this year to go to colleges and high schools in France and abroad, to share their passion for research and to discover the reality of their daily life. The operation will run from November 4th to November 29th. During the first 6 editions, just over … [Read more]
2019 Science Fair at the institute on October 11, 12 and 13
As part of the Science Fair (Fête de la science), the Institute of Myology is organizing several events. On October 11, the Institute invited donors to visit laboratories. The laboratory of Physiology and neuromuscular evaluation directed by Jean-Yves Hogrel will offer them the opportunity to see closely various tools of evaluation of the force or … [Read more]
Odile Boespflug-Tanguy, the Head of I-Motion: strengthening the links between preclinical research, clinical research and care
Odile Boespflug-Tanguy, a paediatric neurologist at the Robert Debré Hospital, has just become head of the I-Motion Institute, in addition to her position as president of the AFM-Téléthon Scientific Advisory Board. She is a paediatrician and researcher by training, and has also headed, during her career, the Auvergne Reference Centre for Neuromuscular Diseases (Centre de … [Read more]
Acceleron abandons the development of ACE-083 in the treatment of FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by a selective muscular deficit (muscles of the face, shoulders and arms). This characteristic made it a good candidate in assessing the efficacy of ACE-083, a drug molecule developed by Acceleron, which, when administered by intramuscular injection, exercises a local myostatin-inhibiting action. In 2016, a phase II clinical trial … [Read more]
