Many people who contact the Familial Dysautonomia Foundation, Inc. are concerned about their risk of being affected by Familial Dysautonomia.
Physicians use physical examinations, personal and family medical history, genetic testing, and laboratory test results in order to diagnose genetic disorders. Learn more about diagnosing genetic disorders here.
Most people with FD experience signs and symptoms from birth. Some features that may appear in FD-affected infants or young children are:
Since FD is a degenerative disorder, symptoms of FD usually become more severe as FD-affected individuals enter adulthood.
We advocate genetic screening for all people to determine if you are a potential carrier of a genetic disorder. If you are concerned that you are a possible carrier of FD, we especially encourage genetic screening.
Because the FD gene is passed down in a recessive manner, most people carrying the FD gene do not know it.
All patients with FD have one or two copies of a single splicing mutation; over 99% of cases of FD in the Ashkenazi Jewish (AJ) population have two copies of this splicing mutation.
Additionally, researchers have recently diagnosed cases of FD in patients with no known Ashkenazi Jewish heritage.
Disclaimer: The FD Foundation does not offer medical advice. We always recommend that you contact the Dysautonomia Center (link) or your personal physician.