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Spinal Muscular Atrophy
Important
It is possible that the main title of the report Spinal Muscular Atrophyis not the name you expected.
Synonyms
- SMA
Disorder Subdivisions
- Werdnig-Hoffman disease or infantile muscular atrophy (SMA type I)
- mild child and adolescent SMA (SMA type II)
- Kugelberg-Welander disease or juvenile SMA (SMA type III)
- spinal muscular atrophy type 4 (SMA type IV)
- Finkel type SMA
- prenatal onset SMA (SMA type 0)
- arthrogryposis multiplex congenita-SMA (SMA type 0)
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.
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com
Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville
IL
60048
Tel: (847)367-7620
Fax: (847)367-7623
800: (800)886-1762
sma@fsma.org
http://www.curesma.com
Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson
AZ
85718
USA
Tel: (520)529-2000
Fax: (520)529-5300
800: (800)344-4863
mda@mdausa.org
http://www.mdausa.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/
Jennifer Trust for Spinal Muscular Atrophy
Elta House
Birmingham Road
Stratford-upon-Avon
Warwickshire
CV37 0AQ
United Kingdom
Tel: 0870 7743651
Fax: 0870 7743652
jennifer@jtsma.org.uk
http://www.jtsma.org.uk
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee
WI
53202
USA
Tel: (414)299-0124
Fax: (414)347-1977
horizons@new-horizons.org
http://www.new-horizons.org
FightSMA (Andrew's Buddies)
1807 Libbie Avenue
Suite 104
Richmond
VA
23226
Tel: (804)515-0080
Fax: (804)515-0081
heatherlennon@fightsma.com
http://www.FightSMA.org .org
Claire Altman Heine Foundation, Inc.
1112 Montana Avenue
Suite 372
Santa Monica
CA
90403
Tel: (310)260-3262
Fax: (310)393-7154
deb@preventsma.org
http://www.preventsma.org
Children with Spinal Muscular Atrophy Ukraine
Gogolia Street 7
Kharkiv
61057
Ukraine
Tel: +38 (050) 364-06-73
info@csma.org.ua
http://www.csma.org.ua
Spinal Muscular Atrophy (SMA) Foundation
888 Seventh Avenue
Suite 400
New York
NY
10019
USA
Tel: (646)253-7106
Fax: (212)247-3079
800: (877)386-3762
info@smafoundation.org
http://www.smafoundation.org
For a Complete Report:
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 11/25/2008
Copyright 2004, 2005, 2006, 2007, 2008 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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