What is familial dysautonomia?
Individuals with familial dysautonomia (FD) lack a protein involved in the development and maintenance of the sensory and autonomic nervous systems. This disorder affects basic bodily functions such as swallowing, temperature regulation, blood pressure, sensitivity to heat and pain, stress responses and tearing of the eyes. FD is seen almost exclusively in Ashkenazi Jews and is associated with poor development, progressive degeneration and a high mortality rate.

What are the symptoms?
Individuals with FD exhibit low muscle tone in infancy, decreased or absent deep-tendon reflexes, delayed motor development and the absence of tears when crying (alacrima). Other common symptoms include gastrointestinal dysfunction, such as reflux and vomiting; inability to compensate for low oxygen levels in the blood; curvature of the spine; poor coordination; difficulty swallowing; inability to process or respond to pain, heat and cold; inappropriate sweating and lack of temperature control; recurrent pneumonia; and dizzy spells due to sudden drops in blood pressure. Declining renal function and cardiovascular instability may also be present. Autonomic crises, in which an individual cannot regulate the body’s responses to stress, can occur at any time and may require hospitalization. The severity of all symptoms varies greatly among individuals. Individuals with FD are usually of normal intelligence.

Is there treatment available?
There currently is no cure for FD, but some supportive treatments are available which can improve the length and quality of life. Artificial tears can be helpful, and medications can help control abnormal blood pressure, nausea and vomiting. Other symptoms may be treated as they arise, such as pneumonia. Early intervention, physical therapy, and aggressive language and learning therapies may help when delays or learning disabilities are present.

What is the life expectancy of someone with familial dysautonomia?
At this time only 60% of patients live to age 20, due to cardiovascular, pulmonary and gastrointestinal problems. Statistics project that a child born with FD in 2006 has a 50% chance of living to age 40 (source).

How do I find out if I am a carrier?
DNA testing can reveal approximately 99.5% of mutations in the IKBKAP gene. Visit Screening and Counseling to learn more. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their families.

How is familial dysautonomia diagnosed?
At age six months, infants may undergo a tear test to confirm alacrima. A physician familiar with the symptoms of FD can recommend genetic testing, which involves a simple blood test, to confirm the FD mutation.

Is prenatal diagnosis available?
DNA testing is available for couples with an affected child or to couples found to be at risk by carrier testing.
 

How can I find out more about familial dysautonomia?

Dysautonomia Foundation 
The Dysautonomia Foundation supports medical treatment, research, public awareness and social services for the benefit of people afflicted with familial dysautonomia. The Foundation has established the world's only two FD treatment centers and is the largest single source of funding for research and treatment specifically for the benefit of people with FD.

FD Hope 
The mission of FD Hope is to find a cure and new treatment options for familial dysautonomia by funding relevant research programs, to provide a support network aimed at addressing the needs of patients and families, and to promote familial dysautonomia education and awareness programs in the medical community and the public.

National Dysautonomia Research Foundation
The NDRF is dedicated to providing those with FD as well as their family member and various health care providers with information and resources relating to the disease.

FD Now
FD Now aims to deliver the next safe, natural substance to the FD community in two years or less by funding the fast-track research at the Laboratory for Familial Dysautonomia Research at Fordham University in New York. FD Now also provides support to and advocacy for FD families and promotes education and awareness to the medical community and public.

Brain Foundation
Brain Foundation is an Australian site with a collection of relevant information for individuals and families living in Australia that are affected by FD.

Dysautonomia Treatment and Evaluation Center
(212) 263-7225
Fax: (212) 263-7041
Email: Felicia.Axelrod@med.nyu.edu