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Genetic and Rare Diseases Information Center (GARD)

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Triple A syndrome

Other Names for this Disease
  • AAA
  • AAA syndrome
  • Achalasia Addisonianism Alacrimia syndrome
  • Achalasia alacrima syndrome
  • Addisonian achalasia syndrome
More Names
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Your Question

My son is 5 years old and has triple A syndrome. He has Addison's and alacrima, and we want to know if it is likely he will develop achalasia. What are the neurological effects of triple A syndrome and when could they affect him?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is achalasia?

Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach.[1] It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax.[2] Achalasia is caused by damage to the nerves of the esophagus. Treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include Botox, medications, or surgery.[1]
Last updated: 7/20/2011

Do all individuals with triple A syndrome develop achalasia?

Most individuals with triple A syndrome develop achalasia. It usually develops during childhood or adolescence, although in some cases it does not occur until early adulthood.[3]
Last updated: 8/16/2010

What are the neurological features of triple A syndrome?

Many of the neurological features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).[3]

People with this condition may have other neurological abnormalities, such as developmental delayintellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain.[3]

Most of the neurologic features of triple A syndrome begin during adulthood, and they often worsen over time.[3]

Last updated: 8/16/2010