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ERN EURO-NMD webinar, 1st March: Sabrina Sacconi (France) and Gabriele Siciliano (Italy)

Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN   Monday 1st March 2021 – 4:00 am (Paris time)   Telemedicine in NMD: state of the art   Prof Sabrina Sacconi (CHU Nice , France) and Prof Gabriele Siciliano (University Hospital Pisa, Italy )   You may register here:

More or less promising new therapeutic approaches in FSH

Facioscapulohumeral myopathy (FSH) results in progressive damage to the muscles of the face, the fixators of the scapula, the muscles of the trunk and the levator muscles of the feet. There are two types, FSH1 (95% of cases) and FSH2 (5% of cases). In both types, the DUX4 gene is abnormally expressed. It encodes the … [Read more]

Subluxation of the eyeball: an exceptional iatrogenic complication in myasthenia gravis

Myasthenia gravis is a neuromuscular immune mediated disease particularly common in adulthood. It is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction. It usually results in a fluctuating deficit in the ocular musculature and is generalized in a significant number of … [Read more]

Resveratrol, an antioxidant tested in DMD, DMB and Fukuyama’s disease for 24 weeks, would improve motor function in less severe patients

Muscle damage in Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD) and in congenital muscular dystrophy of the Fukuyama type, an alpha-dystroglycanopathy, is accompanied by inflammation of the muscle and cellular oxidative stress that contribute to muscle waisting and its loss of function. A Japanese team has just published the results of a phase … [Read more]

A European survey highlights the burden of type I SMA for “informal” caregivers

SMA is the second most common neuromuscular disease in children. It causes paralysis of very varying age and severity causing respiratory and orthopedic complications. There are four types  (from I to IV) depending on the age of onset and the best motor function achieved. SMA types I and II and, to a lesser degree, type … [Read more]

Myasthenic attack and ventilatory assistance: a tracheostomy is necessary in half of the cases

Myasthenia gravis (MG) is an autoimmune neuromuscular disease linked to the deleterious action of autoantibodies directed against elements of the neuromuscular junction. The majority of MG is related to dysfunction of the acetylcholine receptor. It can take a dramatic turn in the form of an acute myasthenic attack, sometimes fatal, requiring intensive care or even … [Read more]

A nucleoside-based treatment to improve respiratory impairment in TK2-deficient myopathy ?

Thymidin kinase 2-deficient myopathy (TK2-deficient myopathy) is a rare mitochondrial disease of varying severity. However, it causes very frequently a weakness of the diaphragm, the reason why half of patients have the first medical consultation, and has a poor prognosis. A nucleoside-based treatment allowed functional improvement in preclinical and compassionate use programme in a small … [Read more]

MFM-32, MyoGrip, MyoPinch et ActiMyo, evaluation tools developed at the Institute of Myology sufficiently sensitive to detect a significant decline over 1 or 2 years in type II et III SMA

Spinal muscular atrophy (SMA) is a degenerative motor neuron disease which results in paralysis of very varying age and severity. There are four types depending on the age of onset and the best motor function achieved. Type I SMA is the most severe form, characterized by a very rapid decline in muscle strength. Type II … [Read more]

A composite score to assess the evolution of SMA in adults

SMA results in a table of paralysis of varying age onset and severity. It affects all ages including adults. As innovative treatments for SMA are launched, including for adults, the need for sensitive evaluation tools to assess small changes over short periods of time, such as in slowly evolving type III and IV AMS, is … [Read more]

First prospective study of tofacitinib in refractory dermatomyositis shows encouraging results

Dermatomyositis is an inflammatory autoimmune disease that affects the skin and muscles, with vasculopathy. Like a genetic interferonopathy, it is accompanied by an overexpression of genes dependent on type 1 interferon, which activates the janus kinase signaling pathway – signal transducers and activators of transcription (JAK- STAT). In 2018, researchers from the Institute of Myology … [Read more]