Blog Archives

Spinal muscular atrophy (SMA) is the second most common neuromuscular disorder in children and adults. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. Most of the adult patients are aging patients from type II or III SMA, they rarely are type … [Read more]

The COMET clinical trial compared the efficacy and safety of neoGAA, a new generation enzyme therapy, with Myozyme, a standard treatment in Pompe disease, both developed by Sanofi-Genzyme. This double-blind, phase 3 trial involved 100 patients with late-onset disease in 56 different centers in 20 countries around the world. Preliminary analysis of the data after … [Read more]

Becker’s muscular dystrophy (or BMD for Becker muscular dystrophy) is an allelic variant of Duchenne muscular dystrophy (DMD). It is due to an incomplete and genetically determined deficiency of dystrophin, a key protein in the architecture of muscle fibers. Much less common than DMD (10% of all dystrophin deficits), it is due to mutations in … [Read more]

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]