GTR Home > Conditions/Phenotypes > Glucocorticoid deficiency with achalasia

Summary

Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood sugar (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two. Many of the 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). People with this condition may have other neurological abnormalities, such as developmental delay, intellectual 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. Many of the neurological symptoms of triple A syndrome worsen over time. People with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition. Alacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. [from GHR] more

Available tests

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Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: GL003, AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, AAAS
    Summary: achalasia, adrenocortical insufficiency, alacrimia

Clinical features

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  • Anisocoria
  • Orthostatic hypotension
  • Babinski sign
  • Muscle weakness
  • Hyperreflexia
  • Short stature
  • Abnormality of vision evoked potentials
  • Achalasia
  • Dysarthria
  • Intellectual disability
  • Microcephaly
  • Hypoaldosteronism
  • Motor axonal neuropathy
  • Alacrima
  • Optic atrophy
  • Hyperpigmentation of the skin
  • Palmoplantar hyperkeratosis
  • Ataxia
  • Global developmental delay
  • Dysautonomia
  • Hypocortisolemia
  • Adrenocorticotropin (ACTH) receptor (ACTHR) defect
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