Blog Archives
Awareness, knowledge, and attitudes about SMA
Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, a literature review of the awareness, knowledge, and attitudes … [Read more]
Institute seminar – 23 May – Julien Ochala (UK)
Actinopathies: From Genetics to Treatment Monday 23 May 2016 – 12:00-13:00 Julien Ochala, PhD FHEA (Lecturer in Human Physiology, Centre of Human and Aerospace Physiological Sciences, Faculty of Life Sciences & Medicine, King’s College London, UK) Host : Gillian Butler-Browne Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol … [Read more]
Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
Cardiac alterations, characterised by conduction delays and arrhythmia, are the second most common cause of death in Myotonic dystrophy (DM). Using RNA sequencing, the authors identified novel splicing alterations in DM heart samples, including a switch from adult exon 6B towards fetal exon 6A in the cardiac sodium channel, SCN5A. They found that MBNL1 … [Read more]
Phase I study of SMT C1100 in paediatric DMD patients
SMT C1100 is a utrophin modulator being evaluated as a treatment for Duchenne muscular dystrophy (DMD). This multicenter, Phase 1 study, the first in pediatric DMD patients, reports the safety, tolerability and PK parameters of single and multiple doses of SMT C1100, as well as analyze potential biomarkers of muscle damage. Twelve patients were … [Read more]
Visualising changes in Na+ and Cl- homeostasis with 7-T MR imaging
The objective of this study was to determine whether altered sodium (Na+) and chloride (Cl-) homeostasis could be visualized in periodic paralyses by using 7-T sodium 23 (23Na) and chlorine 35 (35Cl) magnetic resonance (MR) imaging. This was performed with a 7-T whole-body system in patients with genetically confirmed hypokalemic periodic paralysis (Cav1.1-R1239H mutation, … [Read more]
Health related quality of life in adult patients SMA
The authors of this study assessed the physical and mental quality of life (QoL) in 62 adult patients with spinal muscular atrophy (SMA), with the aim of improving care for patients with SMA. Physical component scores (PCS) and mental component scores (MCS) of the Short Form -36 Health Survey (SF-36) were obtained. Correlations with … [Read more]
Defining the natural history of LGMD2A
The objectives of this study were threefold: i) to better define the clinical characteristics of a large group of patients with confirmed calpainopathy, ii) to describe the profile and degree of muscle weakness as well as the various modalities of disease progression, and iii) to select outcome measures for future clinical trials. The authors … [Read more]
Use of advanced MRI methods to quantify spinal cord atrophy in SMN1-linked SMA
The mechanisms underlying the topography of motor deficits in spinal muscular atrophy (SMA) remain unknown. This study investigated the profile of spinal cord atrophy (SCA) in SMN1-linked SMA, and its correlation with the topography of muscle weakness. Eighteen SMN1-linked SMA patients type III/V and 18 age/gender-matched healthy volunteers were included. Patients were scored on … [Read more]
Institute seminar – 9 May – Sue Shakelton (UK)
The LINC complex: a nuclear-cytoskeletal connector and contributor to inherited muscular dystrophies Monday 9 May 2016 – 12:00-13:00 Sue Shakelton (Leicester, UK) Host : Anne Bertrand Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret
AIRE, key factor in the gender inequality for autoimmune diseases
Nadine Dragin, researcher among a team co-directed by Sonia Berrih-Aknin and Rozen le Panse “Myasthenia Gravis, etiology, pathophysiology & therapeutic approach“, brought to light the central role of AIRE, a key factor for immune tolerance, in the gender inequality regarding autoimmune diseases. To prove this inequality, the researchers from the Institute of Myology looked into … [Read more]
