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Triple A syndrome
Other Names for this Disease
- AAA syndrome
- Achalasia Addisonianism Alacrimia syndrome
- Achalasia alacrima syndrome
- Addisonian achalasia syndrome
achalasia, Addison disease, and alacrima (a reduced or absent ability to secrete tears). Most people with triple A syndrome have all three of these features, although some have only two. Affected individuals may also have dysautonomia, developmental delay, intellectual disability, speech problems, a small head size, muscle weakness, movement problems, peripheral neuropathy, and optic atrophy. Many of the neurological symptoms of triple A syndrome worsen over time. Triple A syndrome is caused by mutations in the AAAS gene and is inherited in an autosomal recessive pattern.Triple A syndrome is an inherited condition characterized by three specific features:
Last updated: 8/16/2010
- Triple A syndrome. Genetics Home Reference. February 2010; http://ghr.nlm.nih.gov/condition/triple-a-syndrome. Accessed 8/16/2010.
- Genetics Home Reference (GHR) contains information on Triple A syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Triple A syndrome. Click on the link to view a sample search on this topic.