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Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

Lookup NU author(s): Dr Hacer Durmus, Dr Juliane Mueller, Professor Hanns Lochmuller

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Abstract

Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress. Between crises symptoms may be mild and variable. Acetylcholinesterase inhibitor therapy is reported to improve clinical symptoms and reduce crises. Patients and methods: We present data on the long-term follow-up of 11 patients with a congenital myasthenic syndrome due to nine different CHAT mutations; ten of the patients have not been previously reported. Results and conclusions: Manifestation varied from the neonatal period to the age of two years, follow-up time from nine months to 12 years. This cohort of CHAT patients studied here enabled us to describe two distinct phenotypes: The neonatal-onset group suffers from apnoeic crises, respirator dependency and bulbar weakness. Apnoea should be carefully distinguished from seizures; a CMS should be taken into account early to start appropriate therapy. Infantile-onset patients show mild permanent weakness, but experience apnoeic crises and worsening which resolve with Acetylcholinesterase - inhibitor treatment. However, after several years of treatment proximal muscle strength may decrease and lead to wheelchair dependency despite the continuation of Acetylcholinesterase - inhibitor therapy. (C) 2009 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.


Publication metadata

Author(s): Schara U, Christen HJ, Durmus H, Hietala M, Krabetz K, Rodolico C, Schreiber G, Topaloglu H, Talim B, Voss W, Pihko H, Abicht A, Müller JS, Lochmüller H

Publication type: Article

Publication status: Published

Journal: European Journal of Paediatric Neurology

Year: 2010

Volume: 14

Issue: 4

Pages: 326-333

ISSN (print): 1090-3798

ISSN (electronic): 1532-2130

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.ejpn.2009.09.009

DOI: 10.1016/j.ejpn.2009.09.009


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Funding

Funder referenceFunder name
European Neurological Society (ENS)
01GM0601German ministry of education and research (BMBF, Bonn, Germany)
Ab130/2-1Deutsche Forschungsgemeinschaft
MU2840/1-1Deutsche Forschungsgemeinschaft

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