Triple A syndrome presenting with myopathy : An Egyptian patient
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 syndr...
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Veröffentlicht in: | The Egyptian journal of medical human genetics 2009-05, Vol.10 (1), p.105-109 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 1110-8630 2090-2441 |