Blog Archives
The determination of alpha-glucosidase activity on fibroblasts provides the greater information in the biochemical diagnosis of Pompe disease
Pompe disease is a lysosomal disease caused by the lack of an enzymatic protein involved in glycogen breakdown. Inherited in an autosomal recessive mode, it results almost constantly in restrictive respiratory failure. A distinction is made between the infant form, which appears very early and has a poor prognosis (IOPD for Infantile Onset Pump Disease) and … [Read more]
ERN EURO-NMD webinar, 21st January: Benjamin Gallais (Canada)
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN Thursday 21st January 2021 – 4:00 am (Paris time) Sleepiness, fatigue and apathy in DM1 patients Dr Benjamin Gallais (Researcher from Cégep de Jonquière and lecturer at the Faculty of Medecine and Health Sciences, Sherbrooke University, Quebec, Canada) … [Read more]
First results from the EUROMAC register
McArdle’s disease (or type V glycogenosis) is the most common metabolic myopathy. It is characterized by exercise intolerance with myalgia, cramps, muscle weakness. It is often accompanied by rhabdomyolysis, hyperCKemia and myoglobinuria, which can lead to acute renal failure. A European register of muscular glycogenosis The EUROMAC register was set up with the support … [Read more]
Japanese phase I / II viltolarsen trial results in DMD confirm positive effects on dystrophin production and exon 53 skipping rate of DMD gene
Viltolarsen (NS-065 / NCNP-01) is an antisense oligonucleotide developed by the Japanese laboratory Shinyaku Co. Ltd. that targets the skipping of exon 53 in the dystrophin gene in Duchenne muscular dystrophy. Viltolarsen has been authorized in Japan since March 2020, an authorization which was based on two clinical trials, an American phase II trial whose … [Read more]
Titinopathies: the comparison of clinical and genetic data help to make certain diagnosis easier
Titin is a muscle protein that gets its name from its “titanic” size. Coded by the TTN gene, it forms the essential backbone of the contractile apparatus of the muscle fiber and interacts with many other proteins in this cell compartment. It is only relatively recently that neuromuscular pathologies, in other words titinopathies, have been … [Read more]
M&M’s – Muscle Monday Seminar – 11 Jan – Rashmi Kothari (Canada)
The role of SMN outside the CNS: Implications for clinical care of Spinal Muscular Atrophy Monday 11th January 2021 – 1 pm-2 pm Rashmi Kothari, PhD. (Ottawa Hospital Research Institute, University of Ottawa, Canada) Hosted by Maria-Grazia Biferi On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr > Further details on the … [Read more]
Muscle imaging specifies the phenotype in myosinopathy linked to MYH7 gene
Myosinopathies, or myosin overload myopathies, are a recently described group of genetically determined neuromuscular disorders related to congenital myopathies. Among them, the autosomal dominant form initially described by Nigel Laing in the context of distal myopathies is due to mutations in the MYH7 gene. The latter encodes a heavy chain of myosin expressed in the … [Read more]
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]
