What is Familial
Dysautonomia?
This
Page Includes:
What is Familial Dysautonomia?
What are the Symptoms?
How is FD Inherited?
How is FD Diagnosed?
Is There a Genetic
Test for FD?
What
is Familial Dysautonomia (FD)?
Familial Dysautonomia - pronounced "dysauto-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:
-
Overflow
tears when we cry
-
Breathing when there isn’t enough oxygen
-
Regulation
of blood pressure and body temperatures
-
Normal swallowing and digestion
-
Safe
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.
What
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 FD logo.
Symptoms
displayed by a baby with FD might include:
-
High
prevalence of breech presentation births
-
Poor
muscle tone - "Floppy Baby"
-
Weak
or absent suck
-
Respiratory
congestion due to misdirected swallowing
-
Blotching
of skin
-
Difficulty
in maintaining temperature
Symptoms
in an older child with FD might include:
-
Delay
in developmental milestones such as walking and speech
-
Poor
balance and unsteady gait
-
Scoliosis
(spinal curvature). 90% of children with FD have scoliosis
before 13 years of age
-
Orthostatic
hypotension - extreme drop in blood pressure with change in posture
-
Breath
holding in early years to the point of fainting
-
Episodic
vomiting
-
Excessive
drooling and sweating
-
A
smooth tongue and decrease in sense of taste
-
Inappropriate
temperature control with very high to very low temperatures
-
Poor
weight gain and growth
-
Frequent
lung infections
-
Decreased
reaction to pain or no reaction at all
-
Cold,
puffy hands and feet
-
Extremes
in blood pressure
-
Corneal
abrasions and dry eyes
-
Gastric
dysmotility
-
Dysautonomic
"crisis"
A
crisis is an incident of extreme physiologic response of the FD
child’s 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."
Important
notes:
-
Not
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
disabilities avoided.
-
FD
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.
How
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. The first clue
for most individuals that they are carriers is the birth of a child with
FD.
For
more information on how FD is inherited, click
here to go to our Genetics page.
How
is FD diagnosed?
The clinical diagnosis of FD is based upon a constellation of criteria:
Absence
of fungiform papillae on the tongue [Compare
NORMAL
and FD tongue images].
Decreased
deep tendon reflexes
Lack
of an axon flare following intradermal histamine
No
overflow tears with emotional crying
A
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
mutation.
Is
there a prenatal or carrier test for FD?
Thankfully, there are prenatal and carrier tests for FD for the general
population.
Click
here to see a "Get Tested" poster.
Click
here for a list of testing locations.
(c) 2006 Dysautonomia Foundation, Inc.
Dysautonomia Foundation, Inc.
315 West 39th Street, Suite
701
New York, NY 10018
Phone: 212-279-1066
Email: info@familialdysautonomia.org
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