What is Familial Dysautonomia?

What is Familial Dysautonomia?

FD or Familial Dysautonomia (pronounced “Dys-auto-NOmia”) is a genetic disease that affects Ashkenazi Jews, primarily causing dysfunction of the autonomic and sensory nervous systems.

The autonomic nervous system controls bodily functions which are often taken for granted, such as:

  • Regulation of blood pressure and body temperature.
  • Normal swallowing and digestion.
  • Ability to respond to stress.

People with FD may drink fluids and be unaware that abnormal swallowing is misdirecting the fluid into the Lungs, rather than the Stomach, causing Lung problems. Sensory abilities are needed to protect the body from injury by ensuring prompt recognition so that proper treatment can be given.

Someone with FD often does not feel pain and may break a bone, or burn themselves, without any awareness of the injury.

Physical Symptoms

  • Crying without tears is one of the most striking symptomsof FD.Other symptoms which may be present are:
  • Poor suck at birth, drooling or feeding problems.
  • Hypotomia (poor muscle tone) or “floppy baby” signs.
  • Delayed developmental milestones such as walking or speech.
  • Inappropriate temperature control with very high feversor very low temperatures.
  • Wide swings in blood pressure.
  • Episodic vomiting.
  • Frequent lung infections or pneumonias.
  • Decreased reaction to pain, or no reaction at all.
  • Poor weight gain or growth.
  • Excessive sweating.
  • Blotchy reddening of skin with excitement or eating.
  • Cold hands and feet.
  • Smooth tongue (diminished number of taste buds).
  • Early spinal curvature i.e. scoliosis.

This video show what it is like to have FD and why we need to do more research

(Created by the familial dysautonomia charity, base in the USA called FDNOW who we collaborate with)

It is estimated that one in thirty 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 gene that transmits the disease. The affected child has
inherited a double dose of the defective recessive gene, one from the mother and one from the father.

A parent has no symptoms or warning signs of being a carrier. When two carriers marry there is a 25% chance with each pregnancy that the recessive genes will pair and produce FD in the child. Thus the first clue for most individuals that they are carriers is the birth of a child with FD.

The FD Gene has been identified

In 2001, the FD gene was identified by 2 research teams and it is possible to get tested for the gene.