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Nemaline Myopathy
by Yael Rosenberg, RN
Description
Nemaline Myopathy (also known as Nemaline Rod Myopathy or Rod
Myopathy) is a rare genetic disorder that can be inherited as
autosomal recessive trait or autosomal dominant trait. It mainly
affects the skeletal muscles which are the muscles utilized by the
body for movement. Mutations in at least six different genes have
been found to cause nemaline myopathy. These specific genes are
responsible for the production of proteins that perform vital
functions in skeletal muscles. These proteins can be found in
sarcomeres which are structures within the skeletal muscles.
Interactions of the proteins within the sarcomere assist in muscle
contractions. Seen under a microscope abnormal muscle cells found in
those afflicted with nemaline myopathy contain rod-shaped,
thread-like material called nemaline bodies. A single mutation of
the nebulin gene on chromosome 2 has been found to be more prevalent
in the Ashkenazi Jewish population and is inherited as an autosomal
recessive trait. In general those afflicted with the altered nebulin
gene have a milder form of the disease, though that is not always
the case.
Symptoms
Symptoms of nemaline myopathy vary depending on severity and type of
the disorder. In the severest form, onset of symptoms is at birth,
with infants exhibiting absence of muscle tone and extreme weakness.
The respiratory muscles are affected and are usually the cause of
death within the first years of life from respiratory failure.
However those with nebulin related nemaline myopathy have a milder
form of the disease. Infants may exhibit feeding and breathing
problems as well as developmental delay. They do gain strength as
they grow and most of those children eventually walk independently
though it is often delayed.
Incidence and Carriers
Carrier frequency in Ashkenazi Jews: Approximately 1 in 108
Disease frequency in Ashkenazi Jews: Approximately 1 in 47,000
Disease frequency in the general population: 1 in 50,000
Treatment
There is currently no specific treatment or cure for nemaline
myopathy. Treatment is supportive and focuses on specific symptoms.
Regular monitoring of respiratory function; physical therapy to
increase muscle strength and functionality; exercise- aerobic,
non-weight bearing; speech therapy, are some of the modalities used
to allow for patients to lead active lives.
Testing
Diagnosis: Muscle biopsy: Presence of nemaline bodies (rod shaped
material) in the muscle cells. However this must be considered along
with the symptoms the patient presents and genetic testing results.
This is because other muscular disorders present with those rod
shape structures in the muscle cells.
Genetic testing for one mutation of the NEB gene has a 95% detection
rate among those of Ashkenazi Jewish ancestry.
Laboratories and Screening
The following laboratories offer genetic testing for Nemaline
Myopathy:
• United States
• Israel
• Europe
UNITED STATES
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
Phone: (301) 519-2100
Fax: (301) 519-2892
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:
Phone: (800) 357-5744
Fax: (508) 389-5549
Client Services - Reproductive Genetics
Tel: (800) 848-4436
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
The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics
47 Eliyahu Golomb, Haifa , 33394
Phone: (+972)-4-835-9851
Phone: (+972)-4-835-9495
Web: http://www.b-zion.org.il
Carmel Medical Center
Molecular Genetics Laboratory
Michal Street, Haifa 34362
Phone: (+972) 4-8250407
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
Ha’Emek Medical Center
Molecular Genetics Unit
Afula 18101 , Israel
Phone: (+972) 4-649-5416
Email:
morad_kh@clalit.org.il
Kaplan medical center, Molecular Genetics Laboratory
Rehovot, Israel
Phone: (+972) 8-944-1534
Web:
http://www.clalit.org.il/kaplan
Meuhedet Rosh Haayin
Molecular Genetics Laboratory.
Hey Beiyar 22 Rosh Haayin 48056 Israel
Phone: (+972)-3-915-5330
Fax: (+972)-3-915-5331
Web: https://www.meuhedet.co.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
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
Rambam Medical Center, Molecular Genetics Laboratory
PO Box 9602 Haifa 31096 Israel
Phone: (+972) 4-854-2456
Prof. Ruth Gershoni -Baruch
E-mail:
rgershoni@rambam.health.gov.il
Shaare Zedek Medical Center
Medical Genetics Institute
Jerusalem, Israel
Phone: (+972) 2-666-6435
Fax: (+972) 2-666-6935
Director: Prof. Ephrat Levy-Lahad
Email: liorab@szmc.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
Soroka University Medical Center
Genetics Laboratories
Beer-Sheva , Israel
Telephone: (+972) 8-6400258
Web: http://www.clalit.org.il/soroka/Content/Content.asp?CID=43&u=420
Tel Aviv Sourasky Medical Center
Genetic Lab
Sourasky Builidng, 1st Floor, Wing 1
Tel Aviv, Israel
Phone: (+972) 3-697-4704
Phone: (+972) 3-697-3992
Fax: (+972) 3-697-4555
Web: http://www.tasmc.org.il
Western Galilee Hospital-Naharia
Molecular Genetics Laboratory
P.O.Box 21
Naharia 2100 Israel
EUROPE
• Germany
GERMANY
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
Resources and More
Nemaline Myopathy Foundation
P.O. Box 5937
Round Rock, Tx 78683-5937
Phone: (512) 388-7985
Website:
www.nemalinefoundation.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
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Toll Free: (877)336-5333
Phone: (920) 336-5333
Fax: (920)339-0995
Email: mums@netnet.net
Web:
http://www.netnet.net/mums
Foundation Building Strength for Nemaline Myopathy
2450 El Camino Real
Suite 101
Palo Alto, CA 94306
Phone: (650) 320-8000
Email:
info@buildingstrength.org
Web:
http://buildingstrength.org
European Alliance of Neuromuscular Disorders Associations
MDG Malta 4,
Gzira Road
Gzira, Intl GAR 04
Malta
Phone: (+356) 21 346688
Fax: (+356) 21 318024
Email: eamda@hotmail.com
Web: http://www.eamda.net
Support Groups
NM Chat Group
To join the main chat group send a blank email to:
nemaline-subscribe@yahoogroups.com
NM Support Group
5 Cairnbank Gardens
Penicuik
Midlothian
EH26 9EA
UK
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