Autosomal dominant myotonia congenita (Thomsen's disease) : a report of the first saudi family and literature review
Author
Source
Issue
Vol. 21, Issue 2 (30 Jun. 1999), pp.1-3, 3 p.
Publisher
King Hamad University Hospital
Publication Date
1999-06-30
Country of Publication
Bahrain
No. of Pages
3
Main Subjects
Abstract EN
Objective : To report the clinical and electromyographic profile of patients diagnosed with autosomal dominant (Thomsen 's) myotonia congenita.
Setting : Nem·ology service at King Fahd Hospital of tbe University (KFHU), AJ-Khobat·, Saudi Arabia.
l\!Iethods : Review of a patient diagnosed with autosomal dominant (Thomsen's) myotonia congenita and his immediate family members.
Results : Autosomal dominant (Thomsen's) myotonia congenita was diagnosed in 3 members of the same family, mother and t·wo offsprings ( 1 male, I female).
The main features of the disease was autosomal dominant inheritance, painless myotonia that improved with exercise "·warm up phenomenon", absence of weakness, muscle hypet·trophy and myotonic discharges on electromyography.
Conclusion: The first Saudi family with Thomsen's myotonia congenita is reported.
Further evaluation exploring the extent of the disease in this kindred is warranted.
American Psychological Association (APA)
al-Sulayman, Abd al-Salam A.. 1999. Autosomal dominant myotonia congenita (Thomsen's disease) : a report of the first saudi family and literature review. Bahrain Medical Bulletin،Vol. 21, no. 2, pp.1-3.
https://search.emarefa.net/detail/BIM-604451
Modern Language Association (MLA)
al-Sulayman, Abd al-Salam A.. Autosomal dominant myotonia congenita (Thomsen's disease) : a report of the first saudi family and literature review. Bahrain Medical Bulletin Vol. 21, no. 2 (Jun. 1999), pp.1-3.
https://search.emarefa.net/detail/BIM-604451
American Medical Association (AMA)
al-Sulayman, Abd al-Salam A.. Autosomal dominant myotonia congenita (Thomsen's disease) : a report of the first saudi family and literature review. Bahrain Medical Bulletin. 1999. Vol. 21, no. 2, pp.1-3.
https://search.emarefa.net/detail/BIM-604451
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 3
Record ID
BIM-604451