The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the face||-|
|Autosomal recessive inheritance||-|
|Decreased CSF homovanillic acid||-|
|Feeding difficulties in infancy||-|
|Muscular hypotonia of the trunk||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Although gene therapy treatment for AADC seems promising in animal models (mice with AADC), clinical studies in humans have not been completed to make sure the treatment works (effective) and is safe.
The Tenth International Catecholamine Symposium (XICS)
Sunday, September 9, 2012 -
Thursday, September 13, 2012
Location: Ailomar Conference Grounds, Pacific Grove, CA
Description: The Tenth International Catecholamine Symposium (XICS) will emphasize integration of basic science with clinical pathophysiology, by a program centering on disease-oriented research about catecholamine systems. The goals of the XICS are to: disseminate the latest important basic scientific, disease-oriented, and patient-oriented medical advances about catecholamines; foster interactions among basic scientists, disease-oriented researchers, and clinical investigators, via common interests in catecholamine systems; emphasize integrative approaches for understanding the roles of catecholamines in cellular, organ, systemic, and organismic integrity; comprehensively update research on catecholamines in rare and common disorders of development in pediatrics, regulation in adults, and degeneration in the elderly; and foster synthesis of molecular genetics with integrative physiology and pathophysiology, based on evolving understanding of catecholamine systems.
Contact: Constantine Stratakis, M.D., NICHD(301) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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