Paramyotonia Congenita in 22 Members of an Arab (Omani) Kindred-Reference-Cited by-同舟云学术

Paramyotonia Congenita in 22 Members of an Arab (Omani) Kindred

Published:2009-01-23 Issue:2 Volume:25 Page:212-215
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Koul Roshan¹,Alfutaisi Amna²,Hira Manjusha²

Affiliation:

1. Department of Child Health (Neurology), Sultan Qaboos University Hospital, College of Medicine and Health Sciences, Muscat, Oman,

2. Department of Child Health (Neurology), Sultan Qaboos University Hospital, College of Medicine and Health Sciences, Muscat, Oman

Abstract

Paramyotonia congenita in 22 members of Arab (Omani) family is reported. Four generations were affected. All had early onset around 1 year of age, with myotonia and cold intolerance. Age of onset in the index case was at 3 months of age. Six members with the disease were examined and investigated. To our knowledge, this is the first report of the condition from this region. Childhood presentation and differential diagnosis is discussed.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073808330185

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