Blog Archives
Natural history of respiratory function in SMA: focus on patients with types II and III
Spinal muscular atrophy (SMA) is a degenerative motor neuron disease which results in paralysis of very varying age and severity. There are four types depending on the age of onset and the best motor function achieved. Infants with type I are by far the most common (50 to 60%) but also the most severely affected. … [Read more]
A Quebec study identifies the predictive factors of social participation restriction in DM1
DM1 is one of the most common neuromuscular diseases in adults. It causes a pluri-systemic attack: the skeletal muscle, the heart, the endocrine glands, the lens, among others, can be affected to varying degrees. The disease is progressive, disabling and frequently accompanied by psycho-cognitive disorders that can lead to social isolation. In an article published … [Read more]
The MME gene is often involved in axonal forms of late onset CMT
Charcot-Marie-Tooth disease (CMT) is one of the most common hereditary neuropathies. Very heterogeneous from a clinical and electrophysiological point of view, but also genetically (nearly a hundred known genes, all forms included), CMT causes a distal motor deficit predominant in the muscles of the feet and hands. In later onset forms, especially in the elderly, … [Read more]
Two studies clarify changes in respiratory function in children with SMA on nusinersen
SMA sma is the second most common neuromuscular disease in children. It is due to a genetically determined deficit in SMN protein and results in paralysis of the limbs and trunk of varying severity. There are four types depending on the age of onset and the the best motor function achieved (type 1 to 4). … [Read more]
DMD: a CRISPR / Cas 9 approach for an effective treatment of muscles using stem cells
American researchers have developed an approach to genomic editing of the DMD gene targeting muscle stem cells using the CRISPR / Cas 9 system associated with an AAV vector. When the product is injected into mdx mice with Duchenne muscular dystrophy, the researchers showed the existence of muscle fibers that produced dystrophin. mdx mice receiving … [Read more]
A prospective real-life study confirms safety and efficacy of quadrivalent HPV vaccine in young patients with juvenile dermatomyositis
Dermatomyositis belongs to the family of inflammatory myopathies. It is an autoimmune disease with muscle and skin expression associated with vasculopathy. In children, its disease-modifying treatment combines corticosteroids and immunosuppressants. A Brazilian team carried out a prospective multicenter study including 42 patients with juvenile dermatomyositis (JDD), aged 9 to 20 years, without selective criterion of … [Read more]
SRP-5051, an antisense oligonucleotide of the PPMO type, would be more effective at a lower dose than etetplirsen for exon 51 skipping in DMD
Sarepta Therapeutics communicated on December 7, 2020 the preliminary results of an international phase II trial (not in France) (MOMENTUM trial) which evaluates SRP-5051 in Duchenne muscular dystrophy. SRP-5051 is a new generation antisense oligonucleotide combining a peptide with the antisense oligonucleotide PPMO (Peptide phosporodiamidate morpholino oligomer). He is targeting exon 51 skipping in DMD. … [Read more]
Description of a large Brazilian cohort of type IV SMA
Spinal muscular atrophy (SMA) is a degenerative motor neuron disease. There are several types depending on the age of onset and the best motor function achieved. Type IV SMA is the rarest, often underdiagnosed, and later form with symptoms beginning at the age of 18. A clinical, neurophysiological and radiological study of a 20 patient-cohort … [Read more]
European and American experts update their recommendations on myasthenia gravis
Disease of the neuromuscular junction, myasthenia gravis (MG) is often associated with thymus defedts (hyperplasia, thymoma). It is characterized by fluctuating muscle weakness, which is aggravated by exertion. In 40 to 50% of cases, its first manifestations in adults only concern eyes (ptosis, diplopia). Therapeutic research in MG is very intense. Based on the most … [Read more]
Epicatechin appears to be of short-term benefit in Becker’s myopathy
In dystrophinopathies, loss of dystrophin leads to dysfunction of the mitochondria, resulting in, among other things, increased inflammation, decreased activation of satellite cells and worsened clinical phenotype. Epicatechin is an antioxidant from the flavonoid family that mimics the effects of aerobic exercise and may therefore induce mitochondria biogenesis. A pilot study in people with heart … [Read more]
