Congenital or autoimmune myasthenic syndromes
RSS feedScoliosis associated with early muscle weakness should prompt a search for CMS
This is the conclusion of an article by a Turkish team which reviewed the records of eleven patients with congenital myasthenic syndrome presenting with scoliosis: the mean age was 5.78 ± 3.27 years and the mean age at diagnosis was 3.55 ± 2.93 years; seven children had a mutation in the COLQ gene, two in … [Read more]
Congenital myasthenic syndromes are common in India
The team of clinicians at Bangalore University Hospital in southern India compiled clinical and genetic data on all cases of congenital myasthenic syndrome (CMS) diagnosed in their unit between 2014 and 2019 : 156 patients from 146 families were included in the study, in the vast majority of cases (94%), a molecular signature could be … [Read more]
Identification of a new form of congenital myasthenic syndrome – Interview with Marion Masingue and Stéphanie Bauché
The case of a patient presenting an atypical form of congenital myasthenic syndrome with the identification of a new mutation in the LRP4 gene has just been published in the journal Science Reports*. Result of a close collaboration between French scientists including clinicians from the Service of Neuro-Myology and researchers from the Myology Centre for … [Read more]
Firdapse® in Myasthenia Gravis too?
3,4-diaminopyridine or amifampridine (Firdapse®) is already indicated in some myasthenic syndromes, congenital or autoimmune (Lambert-Eaton). In the past, case reports had alerted to the possible efficacy of this drug in myasthenia gravis as well. The results of an open-label clinical trial conducted in Italy in 15 adults with anti-acetylcholine receptor (AChR) myasthenia gravis support these … [Read more]
Initial findings from the European registry for Lambert-Eaton syndrome
Lambert-Eaton syndrome is an ultra-rare presynaptic myasthenic syndrome of autoimmune origin. A European registry has been established with the support of the pharmaceutical industry and has identified 96 patients followed in 30 clinical centres: three-quarters of them were receiving specific treatment in the form of 3-4-DAP (3-4 didydro-aminopyridine) or one of its derivatives, 3-4 DAPP, … [Read more]
