Blog Archives
A more detailed characterization of the brain phenotype in DM1 is possible with EEG
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]
Risdiplam authorized in the US can now be prescribed in France in SMA type 2 under nominative TUA
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]
FSH combined with Williams-Beuren syndrome: a probably non-fortuitous association
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]
Post hoc analysis of MGTX trial supports legitimacy of thymectomy in MG without thymoma
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]
British study points to high frequency of urinary incontinence in dystrophinopathies
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]
Risdiplam: a third medicine authorised in the United States for type 1, 2 and 3 SMA, for children 2 months of age or older and for adults of all ages
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]
Efficacy of rituximab in refractory or corticosteroid-dependent myasthenia gravis, a real-life study
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]
AI for diagnosis and understanding of idiopathic myositis
Machine learning is gradually revealing its potential in neuromuscular diseases. A Hispanic-American team recently used this artificial intelligence technology to characterize the gene expression profile specific to each type of inflammatory myopathy in muscle biopsies. The study included 49 patients with autoimmune necrotizing myopathy, 39 with dermatomyositis, 8 with antisynthetase syndrome and 13 with sporadic … [Read more]
The benefit of ERT in Pompe disease is confirmed by longitudinal data from the French registry and the international database
Two studies published in June 2020 were based on data from a register and a database set up in Pompe disease, one in France (in 158 adults), the other internationally. (in 396 adults), to assess the long-term effects of treatment with enzyme replacement therapy (ERT). In both cases, the studies confirm the long-term efficacy of … [Read more]
rAAVrh74.MCK.micro-dystrophine administration in 4 boys with DMD results in dystrophin production and has a functional effect
The results of a phase I / II clinical trial still underway in the USA which evaluates the safety and efficacy of rAAVrh74.MCK.micro-dystrophin (SRP-9001), a gene therapy product developed by Sarepta Therapeutics, were published in the journal JAMA Neurology on June 15, 2020. This trial has so far included 4 boys aged 4 to 6 … [Read more]
