Blog Archives
Becker muscular dystrophy: molecules that target NO synthase
A team from the Institute of Myology has identified molecules capable of targeting NO synthase, an enzyme involved in the synthesis of nitric acid and whose expression is reduced in Becker muscular dystrophy (BMD). The “Therapeutic Strategies Based on RNA Repair & Pathophysiology of Skeletal Muscle” group, led by France Pietri Rouxel (Myology Centre for … [Read more]
A family-based study into penetrance in FSHD 1
This observational cross-sectional study was conducted in a national facioscapulohumeral muscular dystrophy (FSHD) expertise center to estimate the penetrance of FSHD1 and to evaluate phenotype-genotype correlations in ten FSHD1 probands carrying 4-9 D4Z4 unit alleles and 140 relatives. The relationship between age-corrected clinical severity score and repeat size, sex, and D4Z4 methylation levels were evaluated. … [Read more]
ACT DMD trial: A post hoc comparing deflazacort vs prednisone/prednisolone
The ACT DMD was a 48-week trial of ataluren for nonsense mutation Duchenne muscular dystrophy (nmDMD). Patients received corticosteroids for ≥6 months at entry and stable regimens throughout study. Here, the authors describe the results of a post hoc analysis that compared the efficacy and safety of deflazacort and prednisone/prednisolone in the placebo arm. Patients … [Read more]
Development of the Charcot Marie Tooth Health Index
The development of a disease specific patient reported outcome for Charcot Marie Tooth disease is an important step in preparation for therapeutic trials. This study describes the development of the Charcot Marie Tooth Health Index (CMTHI) based on responses of participants from the Inherited Neuropathy Consortium Contact Registry. Factor analysis, assessment of test-retest reliability, known … [Read more]
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]
