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Home Page > Diseases by Region: Ashkenazi > Torsion Dystonia

Torsion Dystonia
by Yael Rosenberg, RN

Description
Early Onset Torsion Dystonia is an autosomal dominant genetic disease where a single gene (DYT1 or TOR1A) mutation (located on chromosome 9) can lead to the genetic disease. This means that if one parent carries the mutation, each offspring has a 50% chance of inheriting the mutation. However, not all individuals with this mutation will present with symptoms as Torsion Dystonia exhibits low penetrance. Torsion dystonia is a movement disorder involving uncontrollable and sustained muscle contractions resulting in repetitive movements and distortions of the body, due to a neurological dysfunction.

Symptoms
There are a number of symptoms associated with Torsion Dystonia which include:
   •  Twisting of the body
   •  Uncontrollable and sustained muscle contractions
   •  Difficulty ambulating
   •  Poor posture
   •  Difficulty grasping objects
   •  Cramps in the hands and feet
   •  Foot Drag

Incidence and Carriers
Carrier frequency: 1 in 1,000 – 1 in 3,000 in the Jewish Ashkenazi population lower in non-Jews.

Disease frequency: 1 in 3,000 - 1 in 9,000 Jewish Ashkenazi population due to low penetrance

Treatment
Currently there is no cure for Torsion Dystonia. Treatment is very patient specific and focuses on reducing or eliminating pain and muscle spasms, seizures and feeding problems
Treatment includes:
   • Medications – at this time there is no single medication that is effective for all but there are those that have been shown to be effective
   • Botunilum Toxin Injections – These are used on those body parts that are affected.
Physical therapy – To increase movement, alleviate pain, and prevent contractures
   • Surgery- This method is utilized when medications are deemed ineffective or their side effects severe.
   • Complementary Therapies - Stress management, splinting and biofeedback may be beneficial.

Testing
Diagnosis is based on symptoms present.

Genetic testing for confirm presence of mutated DYT1 gene.

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

UNITED STATES
All Children's Hospital
501 6th Avenue South
St. Petersburg, FL 33701
Phone: (727) 767-8985
Fax: (727) 767-8367
Lab Phone: (727) 767-4261

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

Center for Genetic Testing at Saint Francis
6161 S. Yale Avenue
Tulsa, OK 74136
Toll Free: (866) 846-0315
Phone: (918) 502-1720 (Main Office)
Fax: (918) 502-1723
Email: fvschaefer@saintfrancis.com

Massachusetts General Hospital
Neurogenetics DNA Diagnostic Lab
Charles River Plaza, North Building
5th Floor, Suite 5240
185 Cambridge Street
Boston, MA 02144
Phone: (617) 726-5721

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

Rush Medical Laboratories
Rush Professional Office Building Laboratory
1725 W. Harrison St., Suite 710
Chicago, IL 60612
Phone: (312) 942-6767
Fax: (312) 942-5223

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
***This lab offers targeted mutation analysis, prenatal diagnosis.

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
Web: http://www.hadassah.org.il 

Sheba Medical Center
The Danek Gertner Institute Human Genetics
Molecular diagnosis Laboratory
Tel Hashomer
Ramat Gan 52621, Israel
Phone: (+972) 3-530-3060
Web: http://www.eng.sheba.co.il

CANADA
Alberta Children's Hospital
Molecular Diagnostic Laboratory
Calgary, Alberta, Canada
Phone: (403) 955-7026
Fax: (403) 955-7624
***This lab offers targeted mutation analysis

BC Children's and BC Women's Hospitals
Molecular Genetics Laboratory
Vancouver, British Columbia, Canada
Phone: (604) 875-2852
Fax: (604) 875-2707
Email: moleculargenetics@cw.bc.ca
***This lab offers targeted mutation analysis

University of Alberta
Molecular Diagnostic Laboratory
Edmonton, Alberta, Canada
Phone: (780) 407-1434
Fax: (780) 407-1761
***This lab offers targeted mutation analysis

EUROPE
   •  Germany
   •  Spain
   •  United Kingdom

GERMANY
Bio.logis Center for Human Genetics
Frankfurt, Germany
Genetic Counselor: Prof Daniela Steinberger, MD, PhD
Phone: (+49) 6953-084-37
Fax: (+49) 6953 084-37-11
Email: Daniela.steinberger@bio.logis.de
***This lab offers targeted mutation analysis, prenatal diagnosis
 

Resources and More
Dystonia Medical Research Foundation
One East Wacker Drive, Suite 2810
Chicago, Illinois 60601-1905
Toll free: (800) 377-DYST (3978)
Phone: (312) 755-0198
Fax: (312) 803-0138
Email: dystonia@dystonia-foundation.org

The Bachmann-Strauss Dystonia & Parkinson Foundation
Fred French Building 551 Fifth Avenue (at 45th Street) Suite 520
New York, NY 10176
Phone: (212) 682-9900
Web: http://www.dystonia-parkinson.org

Care4Dystonia, Inc.
Suite 4F
440 East 78th Street
New York, NY 10075 USA
Web: http://www.care4dystonia.org

Tyler’s Hope for a Dytonia Cure
13351 Progress Blvd
Alachua, FL 32615
Web: http://www.tylershope.org

European Dystonia Federation
2 Muttoes Court, St Andrews,
KY16 9AY, UK.
Phone: (+44) 7736625450
Fax: (+44) 1334 474662
Email: sec@dystonia-europe.org

The Dystonia Society
2nd Floor
89 Albert Embankment
Vauxhall, London SE1 7TP
Phone: (+44) 845 458 6211
Fax: (+44) 845 458 6311

Amadys – Association des malades atteints de dystonie
Marie Christine Viallet
La Bauche
43320 Vergezac
Email : secretariat.amadys@amadys.fr
Dytonia Informational site in French
 

Support Groups
Dystonia Medical Research Foundation – Support Groups
Web: http://www.dystonia-foundation.org/pages/find_a_support_group/233.php

Dystonia Dreams
Web: http://www.dystonia-dreams.org

Amadys – Association des malades atteints de dystonie
Marie Christine Viallet
La Bauche
43320 Vergzac
Email : secretariat.amadys@amadys.fr

RareShare
Web: http://www.rareshare.org/main/about
RareShare is a social network joining together patients, families, caregivers and health care professionals to share knowledge and experiences relating to rare medical disorders.

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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