Myology research highlights
RSS feedA large Italian cohort confirms the complexity in interpreting borderline FSHD genotypes
Facioscapulohumeral muscular dystrophy (FSHD) affects 4.5 per 100,000 people in Europe. It typically manifests as muscle weakness with a specific pattern, since it affects the muscles of the face and those around the shoulder blades. The most common form, FSHD type 1, is the result of contraction of the repeated D4Z4 units in the 4qA … [Read more]
Inclusion myositis and sirolimus: the final results of the Rapami trial pave the way for a phase III
Sporadic inclusion myositis combines inflammatory processes and muscle degeneration. It is the most common myositis after the age of 50, but also the only one that is unresponsive to the usual treatments for these autoimmune diseases (corticosteroids, immunosuppressants). Between 2015 and 2017, Prof. Olivier Benveniste’s team led, with the financial support of AFM-Téléthon, a single-center, … [Read more]
New information from clinical trials on Pompe disease
The 10th French Pompe disease Day took place on 28 January 2021 by videoconferencing. It brought together over 80 experts, and provided the opportunity not only to review the consequences of the health crisis on patient care, but also to provide an overview of the various trials currently underway or in preparation in France. Although … [Read more]
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]
New results for golodirsen in DMD demonstrate a tendency to protect muscle from degeneration
The golodirsen (Vyondys 53 – SRP-4053) antisense oligonucleotide (Sarepta Therapeutics) targeting exon 53 skipping of the dystrophin gene (DMD gene) has been authorised in the United States in Duchenne muscular dystrophy (DMD) since February 2020. New data from the phase I/II trial of golodirsen (which ended in 2019) has just been published in the journal … [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]
