Triple A syndrome presenting with myopathy : An Egyptian patient
Joint Authors
Shawqi, Rabah M.
al-Safadi, Hibah H.
al-Sayyid, Solaf Muhammad
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 10, Issue 1 (31 May. 2009), pp.105-109, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2009-05-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
Triple A syndrome (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by Adrenocorticotropic hormone resistant adrenal insuffi ciency, Alacrmia, Achalasia of the oesophageal cardia, progressive neurological degeneration and occasionally autonomic instability (making it 4A syndrome).
Reported neurological abnormalities included developmental delay, ataxia and polyneuropathy with sensory, motor and autonomic components, long-tract degeneration, parkinsonism and mild dementia.
In this paper we report a 13 year old boy with Allgrove syndrome presenting with muscular weakness that was confi rmed by EMG studies.
To our knowledge, muscle disease in Allogrove syndrome was not reported before.
American Psychological Association (APA)
Shawqi, Rabah M.& al-Safadi, Hibah H.& al-Sayyid, Solaf Muhammad. 2009. Triple A syndrome presenting with myopathy : An Egyptian patient. The Egyptian Journal of Medical Human Genetics،Vol. 10, no. 1, pp.105-109.
https://search.emarefa.net/detail/BIM-203891
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Triple A syndrome presenting with myopathy : An Egyptian patient. The Egyptian Journal of Medical Human Genetics Vol. 10, no. 1 (May. 2009), pp.105-109.
https://search.emarefa.net/detail/BIM-203891
American Medical Association (AMA)
Shawqi, Rabah M.& al-Safadi, Hibah H.& al-Sayyid, Solaf Muhammad. Triple A syndrome presenting with myopathy : An Egyptian patient. The Egyptian Journal of Medical Human Genetics. 2009. Vol. 10, no. 1, pp.105-109.
https://search.emarefa.net/detail/BIM-203891
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 108-109
Record ID
BIM-203891