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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Congenital myasthenic syndrome due to homozygous CHRNE mutations: Report of patients in Arabia
Journal of Neuro-Ophthalmology, Volume 31, No. 1, Year 2011
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Description
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. © 2011 Lippincott Williams & Wilkins, Inc.
Authors & Co-Authors
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Oystreck, Darren T.
Saudi Arabia, Riyadh
College of Medicine
Al-Faky, Yasser H.
Saudi Arabia, Riyadh
College of Medicine
Kabiraj, Mohammad Muslim Uddin
Saudi Arabia, Riyadh
Riyadh Military Hospital
Omer, Mohamed I.A.
Trinidad and Tobago, St Augustine
Faculty of Medical Sciences
Subahi, Elamin M.
Unknown Affiliation
Beeson, David M.W.
United Kingdom, Oxford
Mrc Weatherall Institute of Molecular Medicine
Abu-Amero, Khaled Khader
Saudi Arabia, Riyadh
College of Medicine
Bosley, Thomas M.
Saudi Arabia, Riyadh
College of Medicine
United States, Camden
Cooper University Hospital
Statistics
Citations: 15
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1097/WNO.0b013e3181f50bea
ISSN:
10708022
Research Areas
Genetics And Genomics
Health System And Policy
Maternal And Child Health