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We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic syndrome due to homozygous mutations of the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). Onset of symptoms occurred in the first few months of life with ptosis, restricted ocular motility, mild proximal weakness, and difficulty swallowing. Multiple hospital admissions were required due to recurrent pulmonary infections. There was no decremental conduction on repetitive nerve stimulation, but jitter was increased on single fiber electromyographic. Since early childhood, our patients have done well without pulmonary or bulbar symptoms and with partial improvement on pyridostigmine therapy. Response of ptosis to diagnostic ice pack test was striking. Although these siblings have a clinical history and examination findings typical of homozygous CHRNE mutations, the clinical presentation of congenital myasthenia subtypes is variable, and accurate genotyping is essential in choosing the appropriate treatment.

Original publication

DOI

10.1097/WNO.0b013e3181f50bea

Type

Journal article

Journal

J Neuroophthalmol

Publication Date

03/2011

Volume

31

Pages

42 - 47

Keywords

Adolescent, Genetic Predisposition to Disease, Homozygote, Humans, Male, Mutation, Myasthenic Syndromes, Congenital, Pyridostigmine Bromide, Receptors, Nicotinic, Saudi Arabia, Siblings, Treatment Outcome, Young Adult