|
|
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
Tylers 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
|
|
