Myology research highlights

Duchenne muscular dystrophy (DMD) is the most common myopathy in young boys. Due to a complete and genetically determined dystrophin deficiency, it causes progressive proximal muscle weakness and, in the longer term, cardio-respiratory complications responsible for premature death. Loss of walking occurs on average around the age of twelve, with the adolescent becoming dependent on … [Read more]

Planned for the beginning of 2021, the goal of the phase IV RESPOND clinical trial, being conducted by Biogen, is to provide answers to a topical question: does taking Spinraza® (nusinersen) improve the effects of Zolgensma® (onasemnogene abeparvovec) in infants or children with SMA for whom the latter has not been sufficiently efficacious? To achieve … [Read more]

Spinal muscular atrophy is one of the most common neuromuscular diseases in children. Due to degeneration of the second motor neuron, it leads to paralysis and premature death in the most severe cases. Among the many sub-categories of SMA depending on the age of the first symptoms and the maximum motor levels reached by the … [Read more]

Tomaculous neuropathy (Hereditary neuropathy with liability to pressure palsies) is a focal and recurrent sensory-motor neuropathy: it is characterized by attacks of paralysis and paresthesia in the area of a nerve (ulnar, external popliteal sciatica, median, etc.), often secondary to minor trauma or prolonged compression of this nerve. These attacks regress completely in most cases, … [Read more]

Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases in adults. It is due to the pathological presence of expansions of CTG nucleotide triplets which result in trapping messenger RNAs inside the cell nucleus. Its clinical manifestations are, by nature, multisystemic: muscular and cardiac damage, cataracts, various endocrine disturbances, etc. Cardiac … [Read more]

Myositis constitute a group of acquired neuromuscular diseases in connection with a dysregulation, of varying intensity, of the immune system. The production of autoantibodies usually signs the diagnosis. Among the inflammatory myopathies, one distinguishes in particular the polymyositis, the dermatomyositis and the myositis with sporadic inclusions, and an entity more recently described: the immune-mediated necrotizing … [Read more]

Myotonic dystrophy type 1 is one of the most common neuromuscular diseases in adults. It is due to the presence of pathological CTG nucleotide triplet expansions resulting in trapping messenger RNAs inside the cell nucleus. Its clinical manifestations are, by nature, multisystemic: muscular and cardiac damage, cataracts, various endocrine disturbances…. Central nervous system involvement is … [Read more]

On August 7, 2020, Roche/Genentech and PTC Therapeutics announced the market authorization for risdiplam (Evrysdi™) in SMA type 1, 2 and 3, in the United States. This oral treatment can be administered from the age of 2 months and at all ages, regardless of the course of the disease. In France, nominative TUAs allow to … [Read more]

Facioscapulohumeral muscular dystrophy (FSH) is one of the most common myopathies and affects people of all ages. Inherited as an autosomal dominant trait, it results in a selective muscle deficit that preferably affects the face, shoulder blades, trunk and ankles (drop foot). There are two forms, FSH1 and FSH2, depending on the genetic mechanism involved. … [Read more]

Diplopia, ptosis, swallowing disorder, fall of the neck, weakness of the limbs, each of these symptoms is suggestive of autoimmune myasthenia gravis if it fluctuates from one moment to the next. This pathology causes excessive exercise fatigue of the striated muscles related to a dysfunction of neuromuscular transmission, induced by specific autoantibodies. Thymectomy is part … [Read more]