Spinal Muscular Atrophy
National Organization for Rare Disorders, Inc.
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General Discussion
Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells in the spinal cord called motor neurons or anterior horn cells. Motor neurons receive the nerve impulses transmitted from the brain to the spinal cord (brainstem) and, in turn, transmit the impulses to the muscle via the peripheral nerves. 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 maximum function achieved. SMA types 0, 1, 2, 3 and 4 are inherited as autosomal recessive genetic disorders and are associated with abnormalities (mutations) in the SMN1 and SMA2 genes which are located on chromosome 5.
Supporting Organizations
Child Neurology Foundation
- 201 Chicago Ave, #200
- Minneapolis, MN 55415
- USA
- Tel: (952)641-6100
- Fax: (952)881-6276
- Tel: (877)263-5430
- Email: jstone@childneurologyfoundation.org
- Website: http://www.childneurologyfoundation.org
Children with Spinal Muscular Atrophy, Ukraine - Kharkiv Charitable Foundation
- Gogolia Street 7
- Kharkiv, 61057
- Ukraine
- Tel: 380503640673
- Email: info@csma.org.ua
- Website: http://www.csma.org.ua
Claire Altman Heine Foundation, Inc.
- 1112 Montana Avenue, #372
- Santa Monica, CA 90403
- Tel: (310)260-3262
- Fax: (310)393-7154
- Email: deb@preventsma.org
- Website: http://www.clairealtmanheinefoundation.org
Cure SMA
- 925 Busse Road
- Elk Grove Village, IL 60007
- Tel: (847)367-7620
- Tel: (800)886-1762
- Email: info@cureSMA.org
- Website: http://www.cureSMA.org/
Fight SMA/Spinal Muscular Atrophy
- 1321 Duke Street
- Suite 104
- Alexandria, VA 22314
- Tel: (703)299-1144
- Email: CarolineGibson@fightsma.com
- Website: http://www.fightsma.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
Jennifer Trust for Spinal Muscular Atrophy
- 40 Cygnet Court
- Timothy's Bridge Road
- Warwickshire, CV37 9NW
- United Kingdom
- Tel: 4401789267520
- Fax: 4401789268371
- Tel: 8009753100
- Email: office@jtsma.org.uk
- Website: http://www.jtsma.org.uk
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or preguntas@nacersano.org
- Website: http://www.marchofdimes.org and nacersano.org
Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208
- USA
- Tel: (520)529-2000
- Fax: (520)529-5300
- Tel: (800)572-1717
- Email: mda@mdausa.org
- Website: http://www.mda.org/
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Tel: (301)496-5751
- Fax: (301)402-2186
- Tel: (800)352-9424
- Website: http://www.ninds.nih.gov/
New Horizons Un-Limited, Inc.
- 811 East Wisconsin Ave
- P.O. Box 510034
- Milwaukee, WI 53203
- USA
- Tel: (414)299-0124
- Fax: (414)347-1977
- Email: horizons@new-horizons.org
- Website: http://www.new-horizons.org
Spinal Muscular Atrophy Foundation
- 888 Seventh Avenue
- Suite 400
- New York, NY 10019
- USA
- Tel: (646)253-7100
- Fax: (212)247-3079
- Tel: (877)386-3762
- Email: info@smafoundation.org
- Website: http://www.smafoundation.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 7/13/2015
Copyright 2012 National Organization for Rare Disorders, Inc.