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Spinal Muscular Atrophy
(SMA)
by Yael Rosenberg, RN
Description
Spinal Muscular Atrophy is an autosomal recessive genetic disorder
or group of hereditary disorders that affect the control of muscle
movement. It is caused by a loss of motor neurons which are
specialized nerve cells in the spinal cord and the brainstem. This
condition is the result of mutation of the SMN1 gene located on
chromosome 5.
There are four types of spinal muscular atrophy that affect children
under the age of one year old:
Type I: Also called Werdnig-Hoffman Disease is the most
severe form of spinal muscular atrophy. It is evident at birth or
within a few months of life. The prognosis is poor for babies with
SMA Type I. Most die within the first two years
Type II: This type of spinal muscular atrophy develops in
children between the ages of six to twelve months. The prognosis for
those with this type of SMA depends on how old they were when
symptoms first appeared. Older children tend to have less severe
symptoms and longer life expectancy.
Type III: Also called Kugelberg-Welander disease this type of
spinal muscular atrophy is milder than type I or II or X-linked
infantile spinal muscular atrophy (description below). Symptoms
emerge between early childhood and early adulthood.
X-Linked Infantile spinal muscular atrophy has many features
that are like type I however those with x-linked infantile SMA are
often born with contractures and in severe cases with broken bones.
Type IV and Finkel type SMA: These types spinal muscular atrophy
usually develop after the age of 30.
Symptoms
Type I: Labored breathing and trouble swallowing; Inability
to sit unsupported; Lack of head control. Progressive weakening of
lung muscles results in recurrent respiratory infections, pulmonary
collapse and eventually death.
Type II: Ability to sit unsupported. Must be helped to stand
or walk.
Type III: Initially able to stand and walk without assistance ,
however, they progressively lose that ability.
X-Linked Infantile SMA: Joint deformities (contractures)
present at birth. Severe cases of this type of SMA are born with
fractures. Contractures and fractures are believed to be a result of
poor muscle tone present before birth.
Type IV and Finkel (adult onset): Present with mild to
moderate symptoms which include: muscle weakness, tremors, and
twitching. This condition often affects ambulation.
Symptoms in an infant:
• Trouble breathing
• Difficulty with feeding
• Poor muscle tone (floppiness)
• Lack of head control
• Minimal unprompted movement
• Gradually increasing weakness as the child grows.
Symptoms in a child:
• Recurrent progressively worsening respiratory infections
• Muffled adenoidal speech
• Deteriorating posture
Incidence and Carriers
Carrier Frequency: 1 in 41 in Ashkenazi Jews
1 in 41 in general population
Disease Frequency; Approximately 4 out of every 100,000 people have
the condition.
It is the number one genetic killer of children under the age of two
Approximately 90% of SMA carriers in the Ashkenazi Jewish population
can be identified with genetic testing of one mutation on the SMN1
gene.
Treatment
Currently there is no cure for this condition and no treatment to
halt the progressive weakness.
Treatment focuses on managing the symptoms of this condition, as
well as preventing complications especially respiratory difficulties
and choking. In addition, physical therapy is vital to prevent
contractures of muscles and tendons.
Testing
Tests:
• CPK levels
• DNA testing to confirm diagnosis
• Electromyography
• MRI of the spine
• Muscle biopsy
Genetic testing; for mutations on the SMN1 gene
Laboratories and Screening
The following laboratories offer genetic testing for Spinal Muscular
Atrophy (SMN1):
• United States
• Israel
• Canada
• Europe
• India
• South Korea
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
Baylor Medical Genetic Laboratories
Medical Genetics Laboratories
Baylor College of Medicine
One Baylor Plaza, NAB 2015
Houston, TX 77030
Phone: (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
***Targeted Mutation Analysis Only
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
***Targeted Mutation Analysis & Prenatal Testing Only
Children’s Hospital and Research Center, Oakland
Attn: Molecular Genetics
Bruce Lyon Research Building, Room 204
747 52nd Street, Oakland CA 94609
Phone: (510) 428-3623
Fax: (510) 450-5692
***Targeted Mutation Analysis & Prenatal Testing Only
Children's Hospital Boston
DNA Diagnostic Lab
300 Longwood Ave. Farley 7
Boston, MA 02115
Phone: (617) 355-5317
Fax: (617) 730-0338
Columbia University Medical Center
Laboratory of Molecular Neurogenetics
630 West 168th Street VC 15th Floor Room 208
New York NY 10032
Phone: (212) 305-3947
Fax: (212) 305-3986
Email: pa2120@columbia.edu
Contact: Pablo Abreu
***Targeted Mutation Analysis Only
Dayton Children’s Medical Center
Molecular and Biochemical Genetics Laboratory
One Children's Plaza
Dayton , OH 45404
Toll-free: (800) 228-4055
Phone: (937) 641-3000
Contact: Leslie A Willis, BS, MB (ASCP)
Phone: (937) 641-3262
Fax: (937) 641-5872
***Targeted Mutation Analysis Only
Emory University School of Medicine
Emory Molecular Genetics Laboratory
Atlanta, GA
Phone: (404) 778-8500
Fax: (404) 778-8559
Email: eglgc@emory.edu
***Targeted Mutation Analysis Only
Nemours Molecular Diagnostic Laboratory
1600 Rockland Road, Wilmington, DE 19803
Phone: (302) 651.6775
Email: MDL@nemours.org
Contact: Susan Kirwin
Phone: (302) 651-6777
Fax: (302) 651-6795
Email: skirwin@nemours.org
***No prenatal or carrier testing
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
New York University School of Medicine
NYU Neurogenetics Laboratory
New York, NY
Contact: Gregory M Pastores, MD
Phone: (212) 263-8344
Fax: (212) 263-1018
Email:
gregory.pastores@med.nyu.edu
***Targeted Mutation Analysis Only
Providence Sacred Heart Medical Center and Children's Hospital
Department of Laboratory Medicine/Molecular Diagnostic Division
101 W. 8th Ave.
Spokane, WA 99204
Director: Marcy L Hoffmann, PhD
Phone: (509) 474-6875
Fax: (509) 474-6876
Email:
marcy.hoffmann@providence.org
***Targeted Mutation Analysis & Carrier Testing Only
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
***Targeted Mutation Analysis & Prenatal Testing Only
Seattle Children's Hospital
Department of Laboratories
A-6901
4800 Sand Point Way NE
Seattle, WA 98105
Phone: (206) 987-2617
Fax: (206) 987-3840
Email:
LabClientServices@seattlechildrens.org
The Ohio State University
Molecular Pathology Laboratory
OSU Molecular Pathology Laboratory
680 Ackerman Road, Room 449
Columbus, OH 43202
Phone: (614) 366-4557
Fax: (614) 366-4589
Director: Thomas W Prior, PhD, FACMG
Email:
prior-1@medctr.osu.edu
Division of Molecular Diagnostics
Department of Pathology
University of Pittsburgh Medical Center
Room S780 Scaife Hall
3550 Terrace St.
Pittsburgh, PA 15213
Phone: (412) 648-8519
Fax: (412) 383-9594
Email: mdx@upmc.edu
***Targeted Mutation Analysis & Prenatal Testing Only
ISRAEL
The Bnai Zion Medical Center
The Simon Winter Institute for Human Genetics,
47 Eliyahu Golomb
Haifa, Israel 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
Telephone: (+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
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
Kaplan medical center, Molecular Genetics Laboratory
Rehovot, Israel
Phone: (+972) 8-944-1534
Web:
http://www.clalit.org.il/kaplan
Meir Medical Center
Molecular Genetics Laboratory
Kfar Saba , Israel
Phone: (+972) 9-747-1059
Web:
http://www.clalit.org.il/meir/Content/Content.asp
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
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
Soroka University Medical Center
Genetics Laboratories
Beer-Sheva , Israel
Phone: (+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
CANADA
Alberta Children's Hospital
Molecular Diagnostic Laboratory
Calgary, Alberta, Canada
Phone: (403) 955-7026
Fax: (403) 955-7624
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
Bioscientia GmbH
Center for Human Genetics
Ingelheim, Germany
Contact: Dr. Nadine Bachmann
Phone: (+49) 6132-781-429
Fax: (+49) 6132-781-194
Email:
nadine.bachmann@bioscientia.de
Centogene GmbH
Schillingalee 68
18057 Rostock
Germany
Phone: (+49) 381-203652-0
Fax: (+49) 381-203652-19
Email:
office@centogene.com
PORTUGAL
CGC Genetics / Centro de Genética Clínica S.A.
Rua Sá da Bandeira, 706 - 1º
4000-432 Porto
Portugal
Phone: (+351) 223 389 900
Fax: (+351) 222 088 710
Email: dcc@cgcgenetics.com
SWEDEN
Department of Clinical Genetics
Karolinska University Hospital, Solna
S-171 76 Stockholm
Phone: (+46) 8-51770000
Director: Magnus Nordenskjold, MD, PhD
Phone: (+46) 8-51773928
Fax: (+46) 8-327734
Email: magnus.nordenskjold@ki.se
UNITED KINGDOM
All Wales Molecular Genetics Laboratory
Institute of Medical Genetics
University Hospital of Wales
Heath Park
Cardiff CF14 4XW
Contact: Sheila Palmer-Smith, DipRCPath
Phone: (+44) 2920 742641
Fax: (+44) 2920 744059
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
INDIA
Centre for Cellular and Molecular Biology
Molecular Diagnostics Division, Genome Research Group
Hyderabad, Andhra Pradesh, India
Phone: (+91) 40-27192549
Fax: (+91) 40-27160591
Email: nidan@ccmb.res.in
SOUTH KOREA
Samsung Laboratory of Medicine
50, Irwon - Dong, Gangnam - Gu,
SEOUL , KOREA 135 - 230
Phone: (+82) 2-3410 -6469
Fax: (+82) 2-3410 - 0022
Email:
samsunglab.smc@samsung.com
Web:
http://www.samsunglab.org
Resources and More
SMA Foundation
888 Seventh Avenue, Suite 400
New York, NY 10019
Toll Free: (877) FUND-SMA
New York Residents: (646) 253-7100
Fax: (212) 247-3079
Email:
info@smafoundation.org
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Toll Free: (800) 572-1717
Phone: (520) 529-2000
Fax: (520) 529-5300
Email: mda@mdausa.org
Web: http://www.mda.org
Families of SMA Registry
Toll Free: (800) 886-1762
Phone: (847) 367-7620
Fax: (847) 367-7623
Email: info@fsma.org
International SMA Patient Registry
Phone: (866) 482-0248
Fax: (317) 278-1100
Email: smareg@iupui.edu
Web:
http://www.smaregistry.iu.edu
Support Groups
FightSMA/Andrew's Buddies Corporation
1807 Libbie Avenue
Suite 104
Richmond, VA 23226
Phone: (804) 515-0080
Fax: (804) 515-0081
Email:
heatherlennon@fightsma.com
Web: http://www.fightsma.org
Families of Spinal Muscular Atrophy
925 Busse Road
Elk Grove Village, IL 60007
Phone: (800) 886-1762
Fax: (847) 367-7623
Email:info@fsma.org
Web: http://www.curesma.org
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