Blog Archives
Postdoctoral position available at the Center of Research in Myology
A postdoctoral position is available at the Center of Research in Myology, in the team ‘Pathophysiology and therapy of the dynamin 2-related centronuclear myopathy’ headed by Marc Bitoun. Title of the project entitled “Therapy of centronuclear myopathies by modulation of Dynamin 2 expression” Download the postdoctoral position announcement
Cervical puncture to deliver nusinersen in patients with SMA
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by profound muscle weakness, atrophy, and paralysis due to degeneration of the anterior horn cells. Nusinersen, the first Food and Drug Administration-approved treatment for SMA, is administered intrathecally via lumbar puncture; however, many patients with SMA have scoliosis or solid spinal fusion with hardware that makes … [Read more]
Social participation and optimizing care for SMA patients
This study employed the Utrecht Scale of Evaluation Rehabilitation-Participation (USER-P) with Frequency, Restrictions and Satisfaction scores to evaluate social participation in 62 adults with spinal muscular atrophy (SMA) types 1c-4. The results showed that early (type 1,2,3a) and late onset (type 3b,4) SMA patients reported similar frequency and satisfaction scores. ‘Age’, ‘motor skills’, ‘pain’ and … [Read more]
Identification of a BIN1 founder Roma mutation that causes a novel, highly specific phenotype of CNM
This study carried out in the Roma population of southern Spain describes the clinical, histological, radiological, and genetic features of a large series of BIN1 patients, in which a novel founder mutation in has been identified. Eighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had … [Read more]
Increased disease severity in EAMG mice following immunization with NMO-IgG and AQP4 peptide
Neuromyelitis optica (NMO), also known as Devic’s disease, is a central nervous system (CNS) autoimmune disease that preferentially affects the spinal cord and optic nerve. The disease is mediated by autoantibodies against aquaporin 4 (AQP4). Myasthenia gravis (MG) is a well-recognized disease affecting the neuromuscular junction, mediated by autoantibodies against the acetylcholine receptor (AChR). Recent … [Read more]
CRISPR/Cas9-mediated editing in DM1
CRISPR/Cas9 is an attractive platform to potentially correct dominant genetic diseases by gene editing with unprecedented precision. In the current proof-of-principle study, the authors explored the use of CRISPR/Cas9 for gene-editing in myotonic dystrophy type-1 (DM1) by excising the CTG-repeat expansion in the 3′-untranslated-region (UTR) of the human myotonic dystrophy protein kinase (DMPK) gene in … [Read more]
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2) are two seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene. The objective of this study was to determine whether these disorders might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction. Fourteen … [Read more]
Natural history of cardiac function in DMD and BMD on home mechanical ventilation
Heart management in dystrophinopathies relies mainly on cardioprotective drugs including angiotensin converting enzyme (ACE) inhibitors, beta-blockers, and aldosterone antagonists. DMD patients exhibit simultaneously a restrictive respiratory failure, requiring long-term home mechanical ventilation (HMV), which may influence cardiac functionThis study analysed the natural history of cardiac function in patients with DMD and BMD (dystrophinopathies) on HMV. … [Read more]
Identification of novel pathogenic mutations in Polish LGMD patients
Disease onset and progression of limb girdle muscular dystrophies (LGMD) are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis. Here, the authors performed whole exome sequencing (WES) in 73 patients with clinically diagnosed LGMD. A filtering strategy aimed at identification of variants related to the disease included integrative analysis of … [Read more]
Preliminary motor function data of nusinersen in type 1 SMA patients
This study reports the six-month results of nusinersen use in 104 type 1 SMA patients, ranging from three months to 19 years, 9 months of age. After six months, an improvement of more than two points was found in 58 of the 104 (55.7%) on the CHOP INTEND and in 21 of the 104 (20.19%) … [Read more]
