Blog Archives
Disease burden of spinal muscular atrophy in Germany
This cross-sectional study aimed to analyse the economic burden and disease-specific health-related quality of life (HRQOL) of patients with spinal muscular atrophy (SMA) in Germany. SMA is a so far non-curable neuromuscular disease of the anterior nerve cells that causes high rates of morbidity and mortality. The cost of illness (COI) and factors that influence … [Read more]
Cancer screening in necrotizing autoimmune myopathies
Cancer can occur in patients with inflammatory myopathies. This association is mainly observed in dermatomyositis, and myositis-specific antibodies have allowed us to delineate patients at an increased risk. Malignancy is also reported in patients with necrotizing autoimmune myopathies, but the risk remains elusive. Anti-signal recognition particle or anti-HMGCR antibodies have been specifically associated with necrotizing … [Read more]
Identification of novel SMCHD1 mutations in Japanese FSHD2 patients
Facioscapulohumeral muscular dystrophy 2 (FSHD2), which is caused by heterozygous mutations in the gene encoding structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), has not been studied in Asian populations. Therefore, it is not known whether this disease mechanism is widely seen. To identify FSHD2 patients with SMCHD1 mutations in the Japanese population, … [Read more]
Expanding the phenotypical spectrum of REEP1-associated neuromuscular disorders
This study aimed to identify the underlying genetic cause of a congenital neuropathy in a 5-year-old boy as part of a cohort of 32 patients from 23 families with genetically unresolved neuropathies. By using autozygosity mapping coupled with next-generation sequencing, the authors investigated a consanguineous family from Lebanon with 1 affected and 2 healthy … [Read more]
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]
