Blog Archives
Tracheostomy and neuromuscular diseases: HAS publishes recommendations for clinical practice
Online at the beginning of December 2020 on the website of the French National Authority for Health (Haute Autorité de Santé or HAS), the good practice recommendation on tracheostomy in the management of ventilatory dependence in patients with slowly progressive neuromuscular diseases. It aims to help decision-making and to improve and harmonize care practices. The … [Read more]
The TOR1AIP1 gene, encoding the nuclear envelope protein LAP1, is involved in a form of CMS
Different forms of congenital myasthenic syndromes (CMS) are identified depending on the location of the modified protein in the neuromuscular junction site. Thus there are presynaptic SMCs, synaptic SMCs and postsynaptic SMCs. In addition, there are SMCs linked to a glycosylation deficiency of proteins which may be proteins at the neuromuscular junction such as the … [Read more]
Anesthesia and NMD: a Dutch article compiles general recommendations and specific advice
A patient with neuromuscular disease can’t be anesthetized like others, agreed. But what are the best practices? A Dutch team brought them together in an article published in October 2020. This publication details each step (preoperative assessment, premedication, etc.) and their risks. It also provides specific instructions by disease or group of diseases (including unlabeled … [Read more]
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]
