Achalasia alacrimia syndrome
Achalasia alacrimia syndrome (AAS), also known as Allgrove syndrome or Triple A syndrome, is a rare autosomal recessive disorder characterized by achalasia, alacrimia, and adrenal insufficiency. The syndrome was first described by Allgrove in 1978.
Symptoms and Signs[edit | edit source]
The main features of Achalasia alacrimia syndrome are achalasia, alacrimia, and adrenal insufficiency. Achalasia is a disorder of the esophagus that affects its ability to move food into the stomach. Alacrimia is a condition characterized by a reduced or absent tear production. Adrenal insufficiency is a condition in which the adrenal glands do not produce enough hormones.
Other symptoms may include neurological abnormalities, dysphagia (difficulty swallowing), dysarthria (difficulty speaking), and orthostatic hypotension (a drop in blood pressure upon standing).
Causes[edit | edit source]
Achalasia alacrimia syndrome is caused by mutations in the AAAS gene. This gene provides instructions for making a protein called ALADIN, which is found in the nuclear envelope of cells. The exact function of this protein is not fully understood, but it is thought to play a role in the normal functioning of the adrenal glands and the nervous system.
Diagnosis[edit | edit source]
Diagnosis of Achalasia alacrimia syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the AAAS gene.
Treatment[edit | edit source]
Treatment for Achalasia alacrimia syndrome is symptomatic and supportive. This may include medications to manage adrenal insufficiency, surgery or other procedures to treat achalasia, and artificial tears to manage alacrimia.
Prognosis[edit | edit source]
The prognosis for individuals with Achalasia alacrimia syndrome varies. With appropriate management of symptoms, individuals can lead a relatively normal life. However, the condition is chronic and lifelong monitoring is required.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Achalasia alacrimia syndrome is a rare disease.
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