Affiliations: Department of Pediatric Neurology, Donders Institute
for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen,
The Netherlands | Department of Human Genetics, Donders Institute for
Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The
Netherlands | Department of Neurology, Donders Institute for Brain,
Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The
Netherlands
Note: [] Correspondence: Corrie E. Erasmus, MD, PhD, P.O. Box 9101, local
address 801, 6500 HB Nijmegen, The Netherlands. Tel.: +31 24 3614654; Fax: +31
24 3617018; E-mail: Corrie.Erasmus@ radboudumc.nl
Abstract: Congenital myasthenic syndromes (CMS) cover a group of heterogeneous
disorders in which the neuromuscular transmission is affected. We diagnosed CMS
in nine unrelated patients in the Netherlands. Six mutations were discovered in
the acetylcholine receptor epsilon subunit gene, two in the receptor-associated
protein of the synapse gene and one mutation in dolichyl-phosphate
(UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1. We describe
the diagnostic work up in these children and common diagnostic pitfalls that
caused delay in diagnosis and treatment, such as the lack of specificity of
clinical features, technical drawbacks of invasive testing in young children,
non-specific changes in muscle histology and false negative results of
electromyography. Early initiation of treatment and alternative treatment
regimens can considerably improve the quality of life of patients with CMS.
