1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-14-70-a 10.15844/pedneurbriefs-14-9-10 Muscle Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Congenital Myasthenic Syndrome and AChR Mutation http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 09 2000 01 04 2016 14 9 70 70 Copyright: © 2000 The Author(s) 2000 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation

A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation.

 Congenital Myasthenic Syndrome E-AChR Subunit Mutations Ophthalmoplegia

A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutation. Compared to the original case report of a CMS with end-plate acetylcholine receptor deficiency, heteroallelic for two e-AChR subunit mutations, and affected with mild muscle weakness, in this homozygous case, the weakness was profound and was associated with muscle wasting. [1]

COMMENT. Differences in the acetylcholine receptor mutation haplotype can markedly influence the severity of congenital myasthenic syndrome. This profoundly affected patient is wheel-chair bound, and has almost complete external ophthalmoplegia and progressive kyphoscoliosis. Therapy with 60 to 120 mg of pyridostigmine daily was of limited benefit.

Sieb JP Kraner S Schrank B Reitter B Goebel TH Tzartos SJ Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation Ann Neurol 2000 Sep 48 3 379 383 10.1002/1531-8249(200009)48:3<379::AID-ANA14>3.3.CO;2-F 10976646