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:

• Protective reactions to pain

• Perceptions of hot and cold

• Taste

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:

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.