What is Familial
What is Familial Dysautonomia?
What are the Symptoms?
How is FD Inherited?
How is FD Diagnosed?
Is There a Genetic
Test for FD?
is Familial Dysautonomia (FD)?
Familial Dysautonomia - pronounced "dys-auto-NO-mia" - is a
genetic disease present at birth in male and female Jewish babies,
primarily causing dysfunction of the autonomic and sensory nervous
systems. Dysfunction is a result of an incomplete development of the
neurons (nerve fibers) of these systems.
The autonomic nervous system
controls bodily functions that are often taken for granted such as:
tears when we cry
Breathing when there isnít enough oxygen
of blood pressure and body temperatures
Normal swallowing and digestion
responses to stress
The sensory nervous system regulates:
The prognosis of the disease depends on early detection, severity of symptoms,
and the individual response to therapeutic treatment for this disorder.
Supportive treatment can enhance quality of life and promote better survival.
are the symptoms of FD?
The lack of tears is the landmark
symptom of FD. Children with FD have an absence of overflow tears
with emotional crying. That is why a tear appears in the
Dysautonomia Foundation's FD logo.
displayed by a baby with FD might include:
prevalence of breech presentation births
muscle tone - "Floppy Baby"
or absent suck
congestion due to misdirected swallowing
in maintaining temperature
in an older child with FD might include:
in developmental milestones such as walking and speech
balance and unsteady gait
(spinal curvature). 90% of children with FD have scoliosis
before 13 years of age
hypotension - extreme drop in blood pressure with change in posture
holding in early years to the point of fainting
drooling and sweating
smooth tongue and decrease in sense of taste
temperature control with very high to very low temperatures
weight gain and growth
reaction to pain or no reaction at all
puffy hands and feet
in blood pressure
abrasions and dry eyes
crisis is an incident of extreme physiologic response of the FD
childís body to stress. This stress may be triggered by something
physical, such as an infection, or by something causing emotional stress,
such as an upcoming medical exam. Whatever the catalyst, the child will
become nauseated, usually accompanied by retching or vomiting, have a
marked increase in blood pressure, sweating, drooling, increased heart
rate, and blotching of the skin. Irritability and a negative personality
change accompany these symptoms. Episodes can occur as frequently as
daily; some patients will never experience a "crisis."
all children with FD have the same symptoms. The number and severity
of symptoms are extremely variable. FD patients can be expected to
function independently if treatment is begun early and major
children are usually of normal intelligence. There has been an
increased frequency of learning disabilities in FD children, however.
Early intervention and aggressive therapy in areas of language and
learning have been extremely successful in prevention and treatment.
is FD inherited?
It is estimated that one in 27 individuals of Eastern European Jewish
ancestry is a carrier of the gene for FD. All parents of children with FD
are carriers of the defective recessive gene that transmits the disease. A
parent has no symptoms or warning signs of being a carrier. For
individuals who have not been screened for the FD trait, the first clue
that they are carriers is the birth of a child with
more information on how FD is inherited, click
here to go to our Genetics page.
is FD diagnosed?
The diagnosis can be made through genetic testing or clinical evaluation.
The clinical diagnosis of FD is based upon a constellation of criteria:
of fungiform papillae on the tongue [Compare
and FD tongue images].
deep tendon reflexes
of an axon flare following intradermal histamine
overflow tears with emotional crying
definitive diagnosis can be made with a blood test that will show mutations in the IKBKAP
gene in an affected individual.
Over 99% of affected individuals will have two copies of the most common
Genetic testing -- Is
there a prenatal or carrier test for FD?
Thankfully, there are prenatal and carrier tests for FD for the general
here to see a "Get Tested" poster.
here for a list of testing locations.
(c) 2006 Dysautonomia Foundation, Inc.