Teerin Liewluck1, Duygu Selcen, Andrew G Engel. 1. Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, Minnesota 55905, USA.
Abstract
INTRODUCTION: Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow-channel syndrome, Dok-7 myasthenia, and β(2) -laminin deficiency, and is not useful in CMS due to defects in muscle-specific kinase (MuSK), agrin, and plectin. EP AChE, Dok-7, and β(2)-laminin deficiencies respond favorably to ephedrine, but ephedrine can no longer be prescribed in the USA. METHODS: We used albuterol, another sympathomimetic agent, to treat 3 patients with EP AChE deficiency and 15 with Dok-7 myasthenia. Response to therapy was evaluated by a 9-point questionnaire pertaining to activities of daily life. RESULTS: Comparison of the pre- and posttreatment responses indicated a beneficial response to albuterol (P < 0.001) in both patient groups. The adverse effects of therapy were like those of ephedrine. CONCLUSION: Our observations should spur controlled, prospective clinical trials of albuterol in these as well as other CMS.
INTRODUCTION:Congenital myasthenic syndromes (CMS) are disabling but treatable disorders. Anticholinesterase therapy is effective in most of them, but is contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the slow-channel syndrome, Dok-7myasthenia, and β(2) -laminin deficiency, and is not useful in CMS due to defects in muscle-specific kinase (MuSK), agrin, and plectin. EP AChE, Dok-7, and β(2)-laminin deficiencies respond favorably to ephedrine, but ephedrine can no longer be prescribed in the USA. METHODS: We used albuterol, another sympathomimetic agent, to treat 3 patients with EP AChE deficiency and 15 with Dok-7myasthenia. Response to therapy was evaluated by a 9-point questionnaire pertaining to activities of daily life. RESULTS: Comparison of the pre- and posttreatment responses indicated a beneficial response to albuterol (P < 0.001) in both patient groups. The adverse effects of therapy were like those of ephedrine. CONCLUSION: Our observations should spur controlled, prospective clinical trials of albuterol in these as well as other CMS.
Authors: M Bestue-Cardiel; A Sáenz de Cabezón-Alvarez; J L Capablo-Liesa; J López-Pisón; J L Peña-Segura; J Martin-Martinez; A G Engel Journal: Neurology Date: 2005-07-12 Impact factor: 9.910
Authors: Duygu Selcen; Margherita Milone; Xin-Ming Shen; C Michel Harper; Anthony A Stans; Eric D Wieben; Andrew G Engel Journal: Ann Neurol Date: 2008-07 Impact factor: 10.422
Authors: Violeta Mihaylova; Juliane S Müller; Juan J Vilchez; Mustafa A Salih; Mohammad M Kabiraj; Adele D'Amico; Enrico Bertini; Joachim Wölfle; Felix Schreiner; Gerhard Kurlemann; Vedrana Milic Rasic; Dana Siskova; Jaume Colomer; Agnes Herczegfalvi; Katarina Fabriciova; Bernhard Weschke; Rosana Scola; Friederike Hoellen; Ulrike Schara; Angela Abicht; Hanns Lochmüller Journal: Brain Date: 2008-01-07 Impact factor: 13.501
Authors: R A Maselli; J J Ng; J A Anderson; O Cagney; J Arredondo; C Williams; H B Wessel; H Abdel-Hamid; R L Wollmann Journal: J Med Genet Date: 2009-03 Impact factor: 6.318
Authors: Renske I Wadman; W Ludo van der Pol; Wendy Mj Bosboom; Fay-Lynn Asselman; Leonard H van den Berg; Susan T Iannaccone; Alexander Fje Vrancken Journal: Cochrane Database Syst Rev Date: 2020-01-06
Authors: Yiran Guo; Minal J Menezes; Manoj P Menezes; Jinlong Liang; Dong Li; Lisa G Riley; Nigel F Clarke; P Ian Andrews; Lifeng Tian; Richard Webster; Fengxiang Wang; Xuanzhu Liu; Yulan Shen; David R Thorburn; Brendan J Keating; Andrew Engel; Hakon Hakonarson; John Christodoulou; Xun Xu Journal: Neuromuscul Disord Date: 2014-12-10 Impact factor: 4.296