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Familial Dysautonomia (FD)
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Description
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.
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
multiple 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 lack of motor coordination
· 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
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
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.
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.
Testing
The following test
determine the diagnosis of FD by its symptoms:
· 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
· Definitive
diagnosis is made by genetic testing showing specific gene mutations.
Carrier genetic testing can detect the FD in
99% of Ashkenazi Jewish carriers.
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.
More
Information and Resources
Quest Diagnostics
Medical Director, Charles Strom, MD, PhD
33608 Ortega Highway
San Juan Capistrano, CA 92690
Contact: Joy Redman, MS, Genetic Counselor
Phone: 949-728-4279
Contact: Cathi Franklin
Phone: 818-376-6157
Division of Genetics
Children's Memorial Hospital
2300 Children's Plaza, Box 59
Chicago, IL 60618
Contact: Dania D' Achille
Phone: 773-880-4454
Fax: 773-929-9565
(tests for both major and minor mutations)
For other testing locations, contact:
Karen Litwack, LCSW
Chicago Center for Jewish Genetic Disorders
One South Franklin Street Suite 2910
Chicago, Illinois 60606
Phone: (312) 357-4717
Fax: (312) 855-3295
Email: jewishgeneticsctr@juf.org
NEW JERSEY
The Jewish Genetic Disease Program
Genetics Associates of New Jersey
200 South Orange Ave.
Livingston, NJ 07039
Contact: Roberta Ebert, Genetic Counselor
Phone: 973-831-6020
NORTH CAROLINA
LabCorp
Has 900+ Patient Service Centers
Phone: 800-533-0567
PENNSYLVANIA
Lysosomal Disease Center
University of Pittsburgh
Pittsburgh, PA
Contact: Erin O'Rourke, Genetic Counselor
Phone: 800-334-7980
*Carrier testing only
PENNSYLVANIA
Kleberg Genetics Clinic
Texas Children's Hospital - Clinical Care Center
6701 Fannin, 16th Floor, Suite 1610
Houston, Texas 77030
Contact: Katie Plunkett, Genetic Counselor
Referral & Scheduling: 832-822-4295
ISRAELI LOCATIONS:
Prof D. Abliovitch
Human Molecular Genetic Laboratory
Hadassah Hospital Hadassah Ein Karem
POB 12000
Jerusalem 91120
Israel
Tel : 972 2 6776016
FAX : 972 2 6777499
Dr. Z. Falick-Zakai
Molecular Genetic Laboratory
West Galil Hospital
POB 21
Nahariah 22100
Israel
Tel 972 4 9107493
Dr. R. Shomrath
Molecular Genetic Laboratory
Ichilov Hospital
6 Wietzman street
Tel Aviv 64239
Israel
Tel : 972 3 6974704
FAX: 972 3 6974555
Dr. Y. Hojirath
Molecular Genetic Laboratory
The H'emek Medical Center
Afula 18101
Israel
Tel: 972 4 6495416
FAX: 972 4 6495221
Prof Z. Borocovitch
Molecular Genetic Laboratory
Bnei Zion Hospital
47 Golomb street
POB 4940
Haifa 31048
Israel
Tel: 972 4 8359850/1/2
FAX: 972 4 8359849
Dr. E. Lishanski Silver
Molecular Genetic Laboratory
Wolfson Medical Center
POB 5
Holon 58100
Israel
Tel: 972 3 5028692/3
Fax: 972 3 5026566
Support Groups
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
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