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

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. T...

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Bibliographic Details
Published in:Journal of child neurology 2010-02, Vol.25 (2), p.212-215
Main Authors: Koul, Roshan, Alfutaisi, Amna, Hira, Manjusha
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age of Onset
Arabs
Cold Temperature
Diagnosis, Differential
Electromyography
Family
Female
Humans
Infant
Male
Myotonia - diagnosis
Myotonia - drug therapy
Myotonia - physiopathology
Myotonic Disorders - diagnosis
Myotonic Disorders - drug therapy
Myotonic Disorders - physiopathology
Oman
Pedigree
Young Adult
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Summary: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.
ISSN:0883-0738
1708-8283
DOI:10.1177/0883073808330185