Muscular channelopathies
RSS feedMexiletine is rarely prescribed in France for myotonia in children
The network of French specialists in childhood myotonia was mobilised to find out how often and in what ways mexiletine is prescribed, even though it has marketing authorisation for adult patients suffering from myotonia, whether dystrophic or not: 34 centres responded to the survey, two of which were not treating children with myotonia, 461 children … [Read more]
Recommendations for cardiac monitoring of adults with canalopathy on mexiletine
Cardiac monitoring is recommended in adults with muscular canalopathy treated for myotonia with mexiletine (Namuscla®), due to a possible pro-arrhythmic effect of the product. To help prescribers, a number of experts – cardiologists and neurologists from various French reference centres, and an Italian pharmacologist – have issued recommendations concerning cardiac monitoring of adults being treated, … [Read more]
Data on quality of life in hypokalaemic periodic paralysis
Forty-nine patients with hypokalaemic periodic paralysis linked to CACNA1S completed a quality of life questionnaire (INQoL). The symptoms with the greatest impact on their quality of life were muscle weakness and fatigue. The older the patients, the poorer their quality of life scores. These symptoms are thought to be due mainly to permanent and progressive … [Read more]
A French study on quality of life in non-dystrophic myotonia
The responses of 47 patients with non-dystrophic myotonia to a French questionnaire on the impact of myotonia (French IMPACT survey 2022) showed that : the main symptoms reported were muscular stiffness (98%), muscular pain (83%), falls (70%) and anxiety (77%), which had a severe impact on their daily lives; a large majority of patients (96%) … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Bumetanide is not effective against focal paralysis attacks in hypokalemic periodic paralysis
A focal attack of paralysis induced by isometric exercise of the abductor muscle of the 5th finger of the hand followed by a period of rest according to the McManis protocol was induced in nine people with hypokalemic paralysis in a crossover trial of bumetanide versus placebo. The amplitudes of the global muscle action potential … [Read more]
Hypokalemic periodic paralysis may present as progressive muscle weakness with or without episodes of periodic paralysis
A Danish team followed 37 people with hypokalaemic periodic paralysis due to CACNA1S mutations for three years (26 to 52 months): two were asymptomatic 21 had only episodes of periodic paralysis, two had isolated permanent muscle weakness, 12 had episodes of periodic weakness associated with a permanent muscle strength deficit. During follow-up : two remained … [Read more]
Muscle imaging can show lesions in periodic paralysis
Periodic paralysis (PP) is an ultra-rare muscle channelopathy characterized by episodes of transient, sometimes prolonged, motor deficits. British researchers conducted a muscle imaging study of the lower limbs of 45 patients diagnosed with PP: 17 patients had a mutation in a calcium channel gene, 16 in a sodium channel gene and 12 in a potassium … [Read more]
An ENMC workshop on anesthesia in NMD
No less than 28 researchers or clinicians (including three French) and two patient representatives from 15 countries participated in the 259th workshop of the European Neuromuscular Center (ENMC). They exchanged between December 2020 and May 2021 around three themes: anesthetic management in various neuromuscular diseases (myasthenia gravis, congenital muscular dystrophies, channelopathies, etc.), with a review … [Read more]
Post hoc analysis and case report support dichlorphenamide in muscle channelopathies
Dichlorphenamide (Keveyis®) is prescribed to prevent attacks of periodic hypokalaemic and hyperkalaemic paralysis, two muscular channelopathies. A post-hoc analysis of the results of the randomized double-blind placebo-controlled HYP-HOP trial and its open-label extension: confirms the efficacy of dichlorphenamide at a dose of 100 mg / day in these two indications, with a lasting reduction … [Read more]
