Spinal Muscular Atrophy

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Spinal Muscular Atrophy is not the name you expected.

Disorder Subdivisions

  • None

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
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
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
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
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
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.