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Home Page > Diseases by Region: Ashkenazi > Walker- Warburg Syndrome

Walker- Warburg Syndrome
by Yael Rosenberg, RN

Description
Walker-Warburg is a rare form of an autosomal recessive genetic disorder that is associated with abnormalities of the brain, muscle and eyes. This congenital syndrome is considered the severest form of muscular dystrophy with most afflicted children dying before the age of three. Walker-Warburg is a rare form of an autosomal recessive genetic disorder that is associated with abnormalities of the brain, muscle and eyes. This congenital syndrome is considered the severest form of muscular dystrophy with most afflicted children dying before the age of three.

Symptoms
The specific symptoms as well as the severity of this disorder vary from case to case.
Some of the more prevalent symptoms include:

   •   Macrocephaly
   •   Cerebral Malformation
   •   Hydrocephaly
   •   Developmental Delay
   •   Mental Retardations
   •   Seizures
   •   Voluntary muscle weakness and atrophy
   •   Abnormalities of the eyes

Incidence and Carriers
Disease Frequency: worldwide distribution however, overall incidence is unknown. A survey conducted in North-eastern Italy reported an incidence rate of 1.2/100,000 live births.

Carrier Frequency: 1 in 149 for one predominant Ashkenazi founder mutation

Treatment
There is currently no cure and no specific treatment available for Walker-Warburg syndrome. Management of the affected baby is generally preventative and supportive. This would include symptomatic treatment such as anticonvulsants for those that have seizures; inserting of a shunt for hydrocephalus; physical therapy to prevent contractures; and nasogastric feeding if necessary.

Testing
Laboratory testing for elevated (CK) creatinine kinase, myopathic/dystrophic muscle pathology and altered a-dystroglycan
EMG demonstrates myopathic changes in the brain.
Genetic testing is definitive.
c.1167insA FKTN mutation a founder mutation can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population.

Laboratories and Screening
The following laboratories offer genetic testing for Canavan Disease:
   •  United States
   •  Israel
   •  Canada
   •  Europe
   •  New Zealand

UNITED STATES
Athena Diagnostics Inc
Reference Lab
Worcester, MA
Phone: (800) 394-4493
or (508) 756-2886 (For callers outside the US and Canada)
Fax: (508) 753-5601
Web: http://www.athenadiagnostics.com

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

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

PreventionGenetics
Molecular Diagnostics and BioBanking
3700 Downwind Drive
Marshfield, Wisconsin 54449 USA
Phone: (715) 387-0484
Fax: (715) 384-3661
Web: http://www.preventiongenetics.com

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) 4-900-7100
Fax: (+972) 4-900-7111
Email: gga@gga.org.il 

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

CANADA
The Hospital for Sick Children
Molecular Genetics Division
555 University Avenue
Room 3420, Hill Wing
Toronto, ON M5G 1X8 Canada
Phone: (416) 813-7200 ext. 1
Fax: (416) 813-7732 

EUROPE
   •  Germany
   •  United Kingdom

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

UNITED KINGDOM
GSTS Pathology
DNA Laboratory
London, United Kingdom
Director: Stephen Abbs, PhD, FRCPath
Phone: (+44) 20-71882582
Fax: (+44) 20-71887273
Email: stephen.abbs@gsts.com

NEW ZEALAND
LabPLUS - Auckland City Hospital
Molecular Genetics Laboratory - Diagnostics Genetics
Auckland, New Zealand
Contact: Alice George, BSc (Hons)
Phone: (+64) 9-3074949 ext 6396
Fax: (+64) 9-3072826
Email: aliceg@adhb.govt.nz 
 

Resources and More
National Hydrocephalus Foundation
22427 S. River Road
Joliet, IL 60436
USA
Toll Free: (888) 857-3434
Phone: (562) 924-6666
Fax: (562) 924-6666
Email: nhf@earthlink.net
Web: http://www.nhfonline.org

Guardians of Hydrocephalus Research Foundation
2618 Avenue Z
Brooklyn, NY 11235
Toll Free: (800) 458-8655
Phone: (718)743-4473
Fax: (718)743-1171
Email: ghrf2618@aol.com
Web: http://www.ghrforg.org

Hydrocephalus Association
870 Market Street
Suite 955
San Francisco, CA 94102
USA
Toll Free: (888) 598-3789
Phone: (415)732-7040
Fax: (415)732-7044
Email: info@hydroassoc.org
Web: http://www.hydroassoc.org

National Institute of Neurological Disorders and Stroke
9000 Rockville Pike
Bethesda, MD 20892
Toll Free: (800)352-9424
Phone: (301)496-5751
Fax: (301)402-2186
TDD: (301) 468-5981
Email: me20t@nih.gov
Web: http://www.ninds.nih.gov

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Toll Free: (888) 205-2311
Toll Free: (888) 205-3223 (TDD)
Phone: (301) 251-4925
Fax: (301) 251-4911
Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Web: http://rarediseases.info.nih.gov/GARD

Cure CMD (Congenital Muscular Dystrophy)
P.O. Box 701
Olathe, KS 66051
USA
Phone: (866) 400-3626
Email: info@curecmd.com
Web: http://www.curecmd.org
 

Support Groups
RareShare
Web: http://www.rareshare.org/main/about

Madisons Foundation
P.O. Box 241956
Los Angeles, CA 90024
Phone: (310) 264-0826
Fax: (310) 264-4766
Email: getinfo@madisonsfoundation.org 
Web: http://www.madisonsfoundation.org

MUMS National Parent to Parent Network
150 Custer Court
Green Bay, WI 54301
Toll Free: (877) 336-5333
Phone: (920) 336-5333
Fax: (920) 339-0995
Email: mums@netnet.net
Web: http://www.netnet.net/mums

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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