Blog Archives
FSH1: a 5-year observational study
The vast majority (95%) of patients with facio-scapulohumeral myopathy (FSH) have type 1 (FSH1) which is linked to a reduction, on chromosome 4, in the number of D4Z4 repeats, between 1 and 10. FSH1 is characterized by high clinical variability between patients and within families. Its course is therefore difficult to predict, especially since few … [Read more]
AMO-02, a potential treatment for congenital and infantile forms of myotonic dystrophy type 1 ?
Myotonic dystrophy type 1 (DM1), one of the most frequent neuromuscular diseases in adults, is characterized by multisystemic clinical manifestations. It is due to an abnormal repeat of the CTG triplet in the DMPK gene. These abnormalities are particularly responsible for an increase in GSK3β enzyme activity, which alters the formation of muscle tissue and … [Read more]
Italian study shows efficacy of nusinersen in large cohort of adults with type 3 SMA
In Italy, nusinersen (Spinraza®) is available for all types (from 1 to 4) of SMA, although the clinical trials which have demonstrated the efficacy of the product have concerned mostly children. To benefit from more data on the safety and efficacy of nusinersen in adults with SMA, a retrospective Italian study was conducted in 13 … [Read more]
A sequential bitherapy in SMA: about five cases in the USA
Spinal muscular atrophy (SMA) is the second most common neuromuscular disease in children. Due to a genetically determined deficiency in SMN protein, SMA causes paralysis of the limbs and trunk, respiratory disorders and orthopedic complications, all the more so if it occurs early. There are four types (from I to IV) depending on the age … [Read more]
No typical profile of sialylation in muscle cells from patients with GNE myopathy
GNE gene, which encodes the GNE enzyme which is involved in the synthesis of sialic acid. Researchers compared the sialylation of glycoproteins and glycolipids in cell cultures from 3 patients with GNE myopathy and 3 control subjects. While there are many differences from one individual to another, they did not identify a typical sialylation profile … [Read more]
Dr Emmanuelle Lagrue, MD-PhD, pediatric neurologist, joins Généthon and I-Motion
Dr Emmanuelle Lagrue, MD-PhD, pediatric neurologist, simultaneously joins Généthon, the AFM-Telethon laboratory dedicated to gene therapy, as Senior Medical Manager, and I-Motion, the pediatric clinical trials platform of the Institute of Myology, as Deputy Director. Holder of a university degree in pediatric neurology and a doctorate in Sciences, Dr Emmanuelle Lagrue multiplies expertises. After her pediatric … [Read more]
The Institute is looking for a Project Manager (M/F) for ERN EURO-NMD
Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its goal: Promote Myology and have it accepted as a standalone clinical and scientific discipline. The Institute of Myology coordinates, around the patient, medical care, basic research, applied research, clinical … [Read more]
WMS 2020: an unprecedented edition that took place “online”!
It is in the current, unprecedented health context that the World Muscle Society (WMS) organised its first 100% virtual Congress for the 25th edition. From 28 September to 2 October 2020, researchers, clinicians and other muscle experts were invited to connect to a platform, to listen and then participate in video-conferences, view “e-Posters”, follow symposia … [Read more]
Myasthenic crisis, a possible cause of post-traumatic stress
Myasthenia gravis generates fluctuating muscle weakness with fatigability, related to dysfunction of the neuromuscular junction. The rapid onset of motor deterioration and respiratory and bulbar difficulties (dyspnea, congestion, pulmonary aspiration, etc.) characterize a myasthenic crisis. This is a life-threatening emergency that requires intensive care hospitalization. This event triggers post-traumatic stress disorder (PTSD) in more than … [Read more]
A group of European experts publishes 11 recommendations for the treatment of SMA with Zolgensma®
Recently authorized in Europe, Zolgensma® (onasemnogene abeparvovec) is one of the innovative treatments for SMA, along with Spinraza® (nusinersen) and Evrysdi® (risdiplam). All of these therapies are most effective if they are administered as early as possible. To encourage the rational prescription of Zolgensma®, a group of European neuromuscular disease experts issued eleven recommendations on: … [Read more]
