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Home Page > Diseases by Region: Ashkenazi > Familial Dysautonomia (FD)

Familial Dysautonomia (FD)
by Yael Rosenberg, RN

Description
Familial Dysautonomia (FD), a rare autosomal recessive genetic disease that results from mutation of the IKBKAP gene located on chromosome 9. The disorder affects the development and survival of certain nerve cells causing dysfunction particularly of the sensory and autonomic systems. The autonomic nervous system controls such involuntary functions such as breathing, swallowing, digestion, temperature and blood pressure regulation, as well as safe response to stress situations. The sensory nervous systems control reactions to pain, temperature and taste.

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

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

Incidence and Carriers
Carrier Frequency: An estimated one in 30 Ashkenazi Jews, Unknown in the general population Disease Frequency: 1 in 3,800 in Ashkenazi Jewish population

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
Diagnosis is done by symptoms – absence of fungiform papillae on the tongue, diminished deep tendon reflexes, no overflow of 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.

Laboratories and Screening
The following laboratories offer genetic testing for Familial Dysautonomia:
   •  United States
   •  Israel
   •  Canada
   •  India
   •  Europe

UNITED STATES
Ambry Genetics
100 Columbia #200
Aliso Viejo, CA 92656
Toll Free (866) 262-7943
Phone (949) 900-5500
Fax (949) 900-5501
ARUP Laboratories
500 Chipeta Way
Salt Lake City, UT 84108-1221
Phone: (800) 522-2787
Fax: (800) 522-2706
Email: clientservices@aruplab.com

Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: 1-800-411-GENE (4363)
Fax: 713-798-2787
Email: genetictest@bcm.edu
Client Services Manager
Alejandra Quick
Phone: (713)798-7656
Fax: (713) 798-2787
Email: ahquick@bcm.edu

Boston University School of Medicine- Human Genetics
700 Albany Street
Suite 408
Boston, MA 02118-2394
Phone: (617) 638-7083
Fax: (617) 638-7092

Denver Genetic Laboratories
UCD DNA Diagnostic Laboratory
12800 East 19th Avenue
Mail Stop 8313
Aurora, CO 80045
Phone: (303) 724-3801 (Main laboratory)
Fax: (303) 724-3802 (HIPAA-secure)

Detroit Medical Center University Laboratories
University Health Center
4201 St. Antoine
Suite 3E-1
Detroit, Michigan 48201
Phone: (313) 993-2631
Fax: (313) 993-2658

Molecular Genetic Laboratory
Harper Hospital
Ground Floor, Rm. G507
DMC-UL
3990 John R
Detroit, MI 48201
Phone (313) 993-2631
Fax (313) 993-2658

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)

Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Telephone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu

Genzyme Genetics
Molecular Diagnostic Laboratory
3400 Computer Drive
Westborough, MA 01581
Phone: (508) 898-9001
Fax: (508) 389-5549
Toll Free: (800) 255-7357

Genzyme Genetics General Inquiries:
Toll Free: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Phone: (800) 848-4436

Hartford Hospital
Clinical Lab Partners/Molecular Genetics and Cytogenetics
Newington, CT
Phone: (860) 545-3409
Fax: (860) 545-3733

Kleberg Genetics Clinic
Texas Children's Hospital - Clinical Care Center
6701 Fannin, 16th Floor, Suite 1610
Houston, Texas 77030
Contact: Katie Plunkett, Genetic Counselor
Phone: (832) 822-4295

LabCorp
1912 Alexander Drive
Research Triangle Park, NC 27709
Phone: (800) 345-4363
Fax: (919) 361-7798
Email: genetics@labcorp.com

Mayo Medical Laboratories
3050 Superior Drive NW
Rochester, MN 55901
Toll Free: (800) 533-1710
Phone: (507) 266-5700
Fax: (507) 284-4542

Mount Sinai Genetic Testing Laboratory (DNA Division)
The Mount Sinai Medical Center
One Gustave L. Levy Place
New York, NY 10029-6574
Phone: (212) 241-3055
Fax: (212) 241-9467
Email: rochelle.pakier@mssm.edu

New Jersey Medical School
Institute of Genomic Medicine
University Hospital
150 Bergen Street, F Level,
Room F342
Newark, NJ 07103
Phone: (973) 972-3170
Fax: (973) 972-0795

NYU Langone Medical Center
Human Genetics Program
550 First Avenue, Room MSB 136
New York, NY 10016
Phone: (212) 263-5746
Fax: (212) 263-7590

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

 ISRAEL
Edith Wolfson Medical Center
Molecular Genetics Laboratory
Holon, Israel
Contact: Esther Leshinsky-Silver, PhD
Phone: (+972) 3-502-8692
Fax: (+972) 3-502-8543

GGA –Galil Genetic Analysis Ltd
P.O.B. 3664
Kazerin, Hatzafon, Israel 12900
Phone: (+972) 4-9007100
Fax: (+972) 4-9007111
Email: gga@gga.org.il

Hadassah Hospital Hadassah Ein Karem
Human Molecular Genetic Laboratory
Dr. Israela (Issy) Lerer (Director)
POB 12000
Jerusalem 91120
Israel
Phone: (+972) 2-677-6016
Fax: (+972) 2-677-7499

Pronto Diagnostic Ltd.
19A Habarzel Street
Ramat Hachayal
Tel Aviv, Israel 69710
Phone: (+972) 73-312-6155
Fax: (+972) 73-212-6144
Email: info@prontodiagnostics.com

Rabin Medical Center
Molecular Genetics
Petah Tikva, Israel
Director: Mordechai Shohat, MD
Genetic Counselor: Inbal Kedar, MSc
Phone: (+972) 3-937-7659
Fax: (+972) 3-937-7660
Email: inbalkd@clalit.org.il

Dr. Z. Falick-Zakai
Molecular Genetic Laboratory
West Galil Hospital
POB 21
Nahariah 22100
Israel
Phone: (+972) 4-910-7493

Dr. R. Shomrath
Molecular Genetic Laboratory
Ichilov Hospital
6 Wietzman street
Tel Aviv 64239
Israel
Phone: (+972) 3-697-4704
Fax: (+972) 3-697-4555

Dr. Y. Hojirath
Molecular Genetic Laboratory
The H'emek Medical Center
Afula 18101
Israel
Phone: (+972) 4-649-5416
Fax: (+972) 4-649-5221

Prof Z. Borocovitch
Molecular Genetic Laboratory
Bnei Zion Hospital
47 Golomb street
POB 4940
Haifa 31048
Israel
Phone: (+972) 4-835-9850/1/2
Fax: (+972) 4-835-9849

Dr. E. Lishanski Silver
Molecular Genetic Laboratory
Wolfson Medical Center
POB 5
Holon 58100
Israel
Phone: (+972) 3-502-8692/3
Fax: (+972) 3-502-6566
 

CANADA
Genetrack Biolabs Inc.
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Contact: Kevin Chu
Phone: (604) 325-7282
Fax: (604) 325-2208
Email: kevin@genetrack.bc.ca

EUROPE
   •  Germany
   •  Netherlands
   •  United Kingdom

GERMANY
bio.logis Center for Human Genetics
Frankfurt, Germany
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 695-308437
Fax: (+49) 695-308437-11
Email: Daniela.steinberger@bio.logis.de

Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email: office@centogene.com

Diagenom GmbH
Robert-Koch-Str. 10
D-18059 Rostock
Germany
Phone: (+49) 381-7022750
Fax (+49) 381-7022759
Email: mail@diagenom.de 

NETHERLANDS
Academic Medical Centre, University of Amsterdam
DNA Diagnostics Laboratory
Amsterdam, Netherlands
Contact: Marcel M.A.M. Mannens, PhD
Phone: (+31) 20-5667899
Fax: (+31) 20-5669389
Email: kg_dna@amc.uva.nl


UNITED KINGDOM
Addenbrooke's Hospital
Molecular Genetics Laboratory
Box 158,
Level 6,
Addenbrooke's Treatment Centre,
Cambridge University Hospitals NHS Foundation Trust
Hills Road,
Cambridge,
CB2 0QQ
Phone: (+122) 3-348-866
Fax: (+122) 3-348-870
Becky Treacy FRCPath/Deputy Director Genetics Laboratories (Head of Molecular Genetics)
Phone: (+122) 3-348-801
Email: becky.treacy@addenbrookes.nhs.uk


Support Groups
Dysautonomia Foundation, Inc.
315 West 39th Street, Ste 701
New York, NY 10018
Phone: (212) 279-1066
Email: info@familialdysautonomia.org
Web: 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
Phone: (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
Phone: (212) 371-1030
National Foundation for Jewish Genetic Diseases Inc.
250 Park Avenue, Suite 1000
New York, NY 10017
Telephone 212-371-1030

 

SUGGESTED READING

Jewish Genetic Disorders: A Layman's Guide: Guide to genetic disorders affecting  the Jewish population more than the non-Jewish. Includes basic facts on genetics & genetic disorders.
     ------------
Books: Jewish Genetic Diseases

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