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Copyright 2004, 2005, 2006, 2007, 2008
NORD is very grateful to Barry Russman, MD, Professor of Pediatrics and Neurology, Oregon Health Sciences University and Shriners Hospital for Children, for assistance in the preparation of this report.
Synonyms of Spinal Muscular Atrophy
Disorder Subdivisions
- arthrogryposis multiplex congenita-SMA
(SMA type 0)
- Finkel type SMA
- Kugelberg-Welander disease or juvenile SMA (SMA type III)
- mild child and adolescent SMA (SMA type II)
- prenatal onset SMA (SMA type 0)
- spinal muscular atrophy type 4 (SMA type IV)
- Werdnig-Hoffman disease or infantile muscular atrophy (SMA type I)
General Discussion
Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells called motor neurons. Motor neurons transmit nerve impulses from the brain or spinal cord (brainstem) to muscle or glandular tissue. The loss of motor neurons leads to progressive muscle weakness and muscle wasting (atrophy) in muscles closest to the trunk of the body (proximal muscles) such as the shoulders, hips and back. These muscles are necessary for crawling, walking, sitting up and head control. The more severe types of SMA can affect muscles involved in feeding, swallowing and breathing.
SMA is divided into subtypes based on age of onset and severity of symptoms. SMA types 0, I, II, III and IV are inherited as autosomal recessive genetic disorders and are associated with abnormalities (mutations) in the SMN1 and SMA2 genes. Finkel type SMA is inherited as an autosomal dominant genetic disorder and is associated with mutations in the VAPB gene.
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Organizations related to Spinal Muscular Atrophy
- Child Neurology Foundation
2000 West 98th Street
Bloomington MN 55431
Phone #: 952-641-6100
800 #: 877-263-5430
e-mail: jstone@childneurologyfoundation.org
Home page: http://www.childneurologyfoundation.org
- Children with Spinal Muscular Atrophy Ukraine
Gogolia Street 7
Kharkiv None 61057
Phone #: +38- (0-50) 364-06-73
800 #: N/A
e-mail: info@csma.org.ua
Home page: http://www.csma.org.ua
- Claire Altman Heine Foundation, Inc.
1112 Montana Avenue, #372
Santa Monica CA 90403
Phone #: 310-260-3262
800 #: N/A
e-mail: deb@preventsma.org
Home page: http://www.clairealtmanheinefoundation.org
- Families of Spinal Muscular Atrophy
925 Busse Road
Elk Grove Village IL 60007
Phone #: 847-367-7620
800 #: 800-886-1762
e-mail: sma@fsma.org
Home page: http://www.curesma.com
- FightSMA/Andrew's Buddies Corporation
1807 Libbie Avenue
Suite 104
Richmond VA 23226
Phone #: 804-515-0080
800 #: N/A
e-mail: CarolineGibson@fightsma.com
Home page: http://www.fightsma.org
.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Jennifer Trust for Spinal Muscular Atrophy
Elta House
Birmingham Road
Stratford upon Avon
Warwickshire None CV37 0AQ
Phone #: +44- (0-)1789 267 520
800 #: (80-0) -975-3100
e-mail: jennifer@jtsma.org.uk
Home page: http://www.jtsma.org.uk
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-572-1717
e-mail: mda@mdausa.org
Home page: http://www.mda.org/
- National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: horizons@new-horizons.org
Home page: http://www.new-horizons.org
- Spinal Muscular Atrophy (SMA) Foundation
888 Seventh Avenue
Suite 400
New York NY 10019
Phone #: 646-253-7106
800 #: 877-386-3762
e-mail: info@smafoundation.org
Home page: http://www.smafoundation.org
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