Blog Archives

Pregnancy and delivery in women with spinal muscular atrophy

OBJECTIVES: To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy (SMA) using a cohort of genetically proven SMA patients from USA. METHODS: This was a cross-sectional questionnaire-based study. The authors mailed questionnaires to 58 women with confirmed SMA. RESULTS: Thirty-two women responded, reporting 35 pregnancies, including 19 women … [Read more]

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System

Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. The authors report a CRISPR (clustered regularly interspaced short palindromic repeat)/Cas9-based strategy to correct the most frequent (exon 2) duplication in the DMD gene by targeted deletion, and tested the efficacy of such an approach in patient-derived myogenic … [Read more]

Pathogenic role of anti-SRP and anti-HMGCR antibodies in necrotising myopathies

Immune mediated necrotising myopathies (IMNM) may be associated with anti-SRP or anti-HMGCR antibodies and the titre of these antibodies is correlated with the disease activity. In this study, the investigators have examined the hypothesis that anti-SRP and anti-HMGCR antibodies may be involved in muscle damage. Muscle biopsies of patients were analysed for atrophy and regeneration, … [Read more]

Correlation between PABPN1 genotype and disease severity in OPMD

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant adult-onset disease characterized by progressive ptosis, dysphagia, and proximal limb weakness. The genetic cause is an expanded (GCN)n mutation in the PABPN1 gene encoding for the polyadenylate-binding protein nuclear 1. Here, the authors hypothesised a potential correlation between the size of the (GCN)n expansion and the severity … [Read more]

SMA: SUNFISH trial begins at I-Motion

The SUNFISH trial, an international phase II study of the splice-modifying drug RO7034067 in people with type 2 or 3 spinal muscular atrophy (SMA), begins in France at I-Motion. The first French investigative centre of the SUNFISH trial has just opened: I-Motion is a paediatric clinical trial platform for neuromuscular diseases at the Institute of … [Read more]

The 30th Telethon edition reaches a final collection of 92,740,769 euros

On 2nd and 3rd December 2016, the Telethon enthralled the public throughout France. The final collection figure now allows us to pursue the objective we set ourselves 30 years ago : to find a cure ! The France Televisions networks join AFM-Telethon in expressing their thanks.  Thanks to Garou, to our TV hosts Sophie Davant … [Read more]

Resistant myasthenia gravis and rituximab

This retrospective study evaluated the efficiency and tolerance of rituximab in the management of resistant myasthenia gravis (MG). Twenty-eight patients who received rituximab for the treatment of MG between 2004 and 2015 at Pitié-Salpétrière University Hospital (Paris, France) were included. The efficacy of rituximab was evaluated every 6 months by the myasthenic muscle score (MMS), … [Read more]

Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis

  This review presents recent findings of key biomolecular processes that underlie two motor neuron degenerative disorders, Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). It focusses on the role of four multifunctional proteins involved in RNA metabolism (TDP-43, FUS, SMN and Senataxin) that play a causal role in these diseases and the reported … [Read more]

Institute seminar – 27 March – Genevieve Gourdon (France)

DMSXL mouse model of myotonic dystrophy type 1: past, present and future Monday 27 March 2017 – 12:00-13:00 Genevieve Gourdon (Imagine Institute) Host : Denis Furling Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro Chevaleret

Inflammatory myopathies: the interest of rehabilitation

Not only is functional rehabilitation during inflammatory myopathies beneficial in terms of inflammation, but it also appears to result in functional improvement. Rehabilitation has long been discouraged in inflammatory myopathies for fear of aggravating muscle inflammation. In an article published in November 2016, members of the Department of Internal Medicine and Clinical Immunology at the … [Read more]