Blog Archives

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]

Dystrophinopathies represent the largest group of neuromuscular diseases. Duchenne muscular dystrophy (DMD) is the most severe form compared to Becker’s muscular dystrophy (BMD). It results in a muscle deficit that begins proximally and is complicated by loss of walking around 10-12 years of age, restrictive respiratory failure and then cardiomyopathy. Advances in management have increased … [Read more]

On 7 August 2020, Roche/Genentech PTC Therapeutics announced that risdiplam had been granted marketing authorisation for type 1, 2 and 3 SMA in the United States, under the commercial name of Evrysdi™. Evrysdi™ is an oral treatment that can be administered from the age of 2 months and to all ages, regardless of disease progression. … [Read more]

Myasthenia gravis is characterized by dysfunction of the neuromuscular junction. Its manifestations are refractory to the usual treatments (anticholinesterase drugs, corticosteroids, etc.) in 15% of cases. Rituximab, an anti-CD20 monoclonal antibody, therefore constitutes a second-line therapeutic alternative. Several case publications or case series support this option. In an article published in June 2020, a French … [Read more]