INFORMATION ON FAMILIAL DYSAUTONOMIA

Familial dysautonomia [fd] is one example of a set of disorders known as hereditary sensory and autonomic neuropathies [hsan]. All hsan are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by partial development of sensory and autonomic neurons. The disorders are assumed to be hereditarily different from each other. Unlike the other hsan, fd has been noted only in persons of ashkenazi jewish extraction and so it is included as one of the jewish genetic diseases.

CAUSES OF FAMILIAL DYSAUTONOMIA

The disease is caused due to mutation of the ikbkap gene on chromosome 9. It is uncommon in the general population, but not amongst ashkenazi jews, where the occurrence is estimated to be 1 in 3,700 people.
Infants with this state have feeding problems and increase pneumonia caused by breathing their formula and food into their airways. Vomiting and sweating spells begin as the infant matures. Young children can also have breath-holding spells that produce unconsciousness, since they can hold their breath for long sufficient to pass out without feeling the uneasiness that normal children would.

SYMPTOMS OF FAMILIAL DYSAUTONOMIA

The most typical clinical feature is absence of overflow tears with exciting crying although it can be normal for a child not to have tearing until 7 months of age. Other signs of the disorder can be present from birth such as a high frequency of breech presentation, weak or absent suck and poor tone.

Complicatedness feeding is observed in 60% of infants in the neonatal period. Poor suck and misdirected swallows often persist and put the patient at risk for objective pneumonia, the major cause of lung infections. If gastroesophageal reflux is present, the risk for aspiration increases.

About 40% of patients will react to stress (infection or emotional events) with a constellation of symptoms termed the dysautonomia crisis. In addition to vomiting, there is frequently increased heart rate and blood pressure, sweating, and a negative change in personality.

Other frequent signs are:
• Speech and walking are delayed
• Unsteady way of walking
• Corneal anesthesia
• Occurrence of breath-holding
• Poor growth
• Spinal curvature (in 90% by age 13 to 14 yrs)

TREATMENT OF FAMILIAL DYSAUTONOMIA

Currently is no cure for fd and death occurs in 50% of affected individuals by age 30. There are only two treatment centers one at new york university hospital dysautonomia treatment and evaluation center and one at the hadassah hospital familial dysautonomia center. One is being planned for the san francisco area forward article The survival rate and quality of life has increased . At present, fd patients can be expected to function independently if treatment is begun early and major disabilities avoided.

A major issue has been aspiration pneumonias, where food or regurgitated stomach content would be aspirated into the lungs which causes infections. Fundoplacations (by preventing regurgitation) and gastrostomy tubes (to provide non oral nutrition) have decreased the frequency of hospitalization.

An fd crisis is the body's loss of control of different [autonomic nervous system] functions including blood pressure, heartrate, and body temperature. Both short term and chronic periodic high or low blood pressure have consequences and medication is used to stabilize blood pressure.