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Familial Dysautononmia (FD)

Familial Dysautonomia (FD) is an inherited disorder, a rare genetic disease that results from the abnormal development of the nervous system, particularly the sensory and autonomic systems. The autonomic nervous system controls such involuntary functions such as swallowing, digestion, temperature and blood pressure regulation.

      · Symptoms and Detection
      · Life Expectancy
      · Testing and Diagnosis
      · Treatment
      · Incidence and Carriers
      · Premarital and Prenatal Screening
      · Resources and More
      · Dysautonomia Treatment and Evaluation Centers

 

IMPORTANT NEW INFORMATION
An excerpt from the New York Based Jewish paper, the Forward ---- (August, 2001)

Race To Discover Gene Mutation Ends in a Virtual Tie
Massachusetts General, Fordham University Share Credit for Dysautonomia Advance

By MIRIAM TAUBER
In a remarkable confluence of scientific sleuthing, two medical teams, working independently, discovered the gene mutation that causes familial dysautonomia within days of each other this past December.

 

The teams, which are based respectively at Fordham University in New York and Massachusetts General Hospital in Boston, published their finding in the March issue of the American Journal of Human Genetics.

 

The discovery of the FD gene means a carrier test for the fatal recessive genetic disorder can be offered to the population in which the disease is most prevalent: Ashkenazi Jews. The Massachusetts General medical team and the Dysautonomia Foundation offer testing at New York University Medical Center, New York's Mount Sinai Hospital and Hadassah Hospital in Jerusalem. The Fordham team will be making carrier testing available at Albert Einstein Medical Center in the Bronx.

 

Symptoms
The usual function of the problematic gene is to produce a substance called dopamine beta-hydroxylase. A lack of beta-hydroxylase creates muliple problems

One of the most striking manifestations is the absence of overflow of tears with emotional crying. Though, keep in mind, it can be normal for a child not to have tears the first seven months of life. Severe eye problems are common because of the resulting dry eye and the absence of corneal response to foreign objects in the eye. Other signs of the disorder can be present from birth such as a high prevalence of breech presentation, weak or absent sucking ability, and poor tone.

Additional indicators include difficulties with swallowing, temperature regulation, blood pressure regulation, and feeding. Individuals with FD also suffer from seizures, are vulnerable to pneumonia, suffer from spine curvature (in 90% by age 13).

Approximately 40% of patients will have what is termed Dysautonomia Crisis. That is a group of symptoms in reaction to stress. In addition to vomiting, there is frequently increased heart rate and blood pressure, sweating, and a negative change in personality.
      · Decreased response to pain and temperature
      · Orthostatic hypotension (blood pressure drops when changing position i.e. standing up)
      · Delayed developmental milestones
      · Speech and motor incoordination
      · Unsteady gait
      · Labile blood pressure (fluctuating BP)
      · Corneal anesthesia
      · Marked sweating with excitement, eating or the first stage of sleep
      · Breath-holding episodes
      · Poor growth

 

Life Expectancy
In general Familial Dysautonomia is a fatal disease, with approx 50% of individuals reaching the age of Thirty. Yet individuals affected by FD are usually of normal intelligence, and can be expected to function independently if treatment is begun early and major disabilities avoided
Incidence and Carriers

 

Testing and Diagnosis
The following test determine the diagnosis of FD
      · The lack of fungiform papillae on the tongue,
      · The lack of flare after intradermal histamine test
      · Greatly diminished deep tendon reflexes.
      · No overflow tears with emotional crying

 

Treatment
Treatment has had a dramatic impact on improving the prognosis of FD. Prior to 1960, approximately fifty percent of patients died before reaching the age of five. Nowadays, about half of the patients live to the age of thirty. The greatest impact on treatment has been the increased use of gastrostomy (surgical incision into the stomach) and fundoplication (mobilization of the lower end of the esophagus and subsequent folding of a portion of the stomach around it) to avoid aspiration pneumonia and to maintain adequate nutrition and hydration.

As there is still no cure for FD, treatments are symptomatic, as per the following:
      · Artificial tears
      · Special feeding techniques
      · Special therapies (occupational, physical, speech)
      · Special drug management of autonomic manifestations such as temperature regulation, blood pressure fluctuations, and digestive problems.
      · Respiratory care
      · Protecting the child from injury (coping with decreased taste, temperature and pain perception)
      · Treatment of orthopedic problems (tibial torsion and spinal curvature)
      · Compensating for labile blood pressures

Currently research in FD includes developing better treatment of orthostatic hypotension and better control of centrally induced nausea and vomiting. In the future, gene therapy may become an option.

 

Incidence and Carriers
An estimated one in 30 Ashkenazi Jews is a carrier of FD.
An individual has to inherit a change gene from both parents to have the disease.
If two carriers for Familial Dysautonomia have a child each child has:
      · One in Four chance of having Familial Dysautonomia
      · Two in Four chance of being a carrier
      · One in Four chance of neither having having FD nor being a carrier.
      · Unaffected siblings of individuals with FD have a Two in Three chance of being carriers.

 

Prenatal Screening
GREAT NEWS!! Until recent events (see above NEW IMPORTANT INFORMATION) in order for testing to be done, at least one individual in the family has to have been diagnosed with FD, for the lab to able to interpret the test result. But now that the FD gene has been discovered, testing is possible for everyone! Please contact the Dysautonomia Foundation, Inc. for more information.

Prenatal diagnosis:
If both members of a couple are shown to be carriers by genetic testing, prenatal diagnosis by amniocentesis (14-17 weeks) or chorionic villus sampling (10-11 weeks) will be possible.

The laboratories at New York University Medical School and Mount Sinai Hospital in New York City and at the Hadassah Medical Center in Jerusalem, Israel, have demonstrated their ability to perform these tests with a high-degree of reliability.

For Genetic Counseling and Screening Resources – Click Here

 

More Information and Resources
     Dysautonomia Foundation, Inc.
     315 West 39th Street, Ste 701
     New York, NY 10018
     Telephone: 212-279-1066
     Email:  info@familialdysautonomia.org
     Website: http://www.familialdysautonomia.org

 

     Dysautonomia Genetic Counseling Center at the
     Human Genetics Program
     NYU School of Medicine
     550 First Avenue, MSB 136
     New York, NY 10016
     tel: 212 263-5746
     fax: 212 263-7590
     email: elsa.reich@med.nyu.edu

 

     Center for the Study and Treatment of Jewish Genetic Diseases
     at UPMC Health Systems
     Contact: Erin O’Rourke, M.S.
     Toll Free 800-334-7980
     Email: eorourke@helix.hgen.pitt.edu

     National Foundation for Jewish Genetic Diseases Inc.
     250 Park Avenue, Suite 1000
     New York, NY 10017
     Telephone 212-371-1030

 

Dysautonomia Treatment and Evaluation Centers

Dysautonomia Center in New York
The Dysautonomia Treatment and Evaluation Center in New York is under the direction of Dr. Felicia B. Axelrod. The Center was established at New York University Medical Center in 1969 to provide care to individuals affected with the genetic disorder Familial Dysautonomia (FD). This is the only Center for FD in the United States and thus serves as a resource for patients and physicians worldwide in assessing and treating FD.

Dysautonomia Center in Israel
The Dysautonomia Center in Israel is at Haddassah Hospital, Mt Scopus in Jerusalem, and is under the direction of Dr. Channa Maayan. The Israeli Center was established as a collaborative center and is modeled after the New York facility. After each patient is evaluated in Israel, information is sent to Dr. Axelrod for review.