Blog Archives
M&M’s – Muscle Monday Seminar – 12 April – Sonia Alonso Martin (Spain)
Intrinsic muscle abnormalities in Amyotrophic Lateral Sclerosis Monday 12 April – 12 am-1 pm Sonia Alonso Martin, PhD (Neuromuscular Diseases Group (Neurosciences Area) at BIODONOSTIA HRI (Donostia/San Sebastián, Spain). Research Fellow – Gipuzkoa Fellows Program for Talent Attraction and Retention) Invited by Maria-Grazia Biferi and Capucine Trollet On prior registration for people outside the Institute … [Read more]
In LGMD R4 related to β-sarcoglycane, SRP-9003 gene therapy appears to be well tolerated and to have promising efficacy
Intermediate outcomes of the phase I / II gene therapy trial with SRP-9003 (scAAVrh74.MHCK7.hSGCB) in children with LGMDR4 linked to β-sarcoglycan (ex-LGMD2E), aged 4 to 13 years, were announced at the annual conference of MDA, the American Muscular Dystrophies Association. This 3-year, single-injection, intravenous infusion safety trial of SRP-9003 tested the tolerance of a first … [Read more]
SMA-PAR, a study of the parenthood experience of parents of children with SMA conducted by Sophie Boursange
Sophie Boursange, psychologist at I-Motion, is currently carrying out research in human and social sciences within the department, under the supervision of Prof. M. Gargiulo, clinical psychologist and Professor of psychology at the University of Paris. This research aims to describe the subjective experience of parents and to analyze the impact of the disease on … [Read more]
The institute is recruiting a Clinical Research Physician
Located in Paris in the heart of the largest European hospital, the Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Téléthon, a patient’s organization. Its objective is to promote the recognition and development of myology as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic … [Read more]
Risdiplam (Evrysdi): the third treatment for SMA authorized in Europe
SMA, that had no long-term treatment so far, has experienced an unprecedented therapeutic revolution in recent years: an antisense oligonucleotide (nusinersen or Spinraza®), a gene therapy product (onasemnogene abeparvovec or Zolgensma ®) and now an oral treatment, risdiplam (Evrysdi ™), now constitutes an innovative therapeutic arsenal for patients with SMA. In fact, the European Commission … [Read more]
Transient neonatal myasthenia gravis: estimation of risk and delay is improved
In myasthenia gravis, autoantibodies against the neuromuscular junction cause fluctuating muscle weakness accentuated by exertion. They can cross the placental barrier and lead to transient neonatal myasthenia gravis, with a life-threatening risk of respiratory failure for the baby. This possibility justifies systematic hospital surveillance of newborns born to mothers with myasthenia gravis, for a period … [Read more]
A positive outcome for magnetic growth rods in severe SMA scoliosis
SMA is one of the most common neuromuscular diseases in children. It is transmitted in an autosomal recessive manner, and causes paralysis of variable severity that can lead to death at an early age. A distinction is made between four types (I to IV), depending on the age of onset of the symptoms and the … [Read more]
SMA: the EMA CHMP issues a positive opinion for risdiplam
Risdiplam (or Evrysdi®) is a small drug molecule administered orally that corrects SMN2 gene splicing, thus producing the missing SMN1 protein in SMN1-related proximal spinal muscular atrophy (SMA). It has had marketing authorisation in the United States since August 2020. Following this, it received marketing authorisation in Brazil, Chile, South Korea, Georgia, Russia and Ukraine. … [Read more]
Inclusion body myositis with or without anti-cN1A; no (distinguishable) difference
Sporadic inclusion body myositis was identified in the 1990s and its onset usually occurs after the age of 50 years. It is one of the inflammatory myopathies, but stands out because of its resistance to immunosuppressants. Arguments that would tend to favour diagnosis of this condition include the presence of quadriceps and finger flexor muscle … [Read more]
Dysphagia and myopathy: a journal has published a review conducted among adults
Dysphagia, which is common and yet still poorly recognised in myopathy, affects both children and adults, and occurs both at the start of the disease and at a later stage. Specifically, it affects the first stages of swallowing, and therefore voluntary muscle activity of the mouth, pharynx and upper oesophageal sphincter. It manifests via different … [Read more]
