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Spinal Muscular Atrophy

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Spinal Muscular Atrophy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • SMA

Disorder Subdivisions

  • SMA type 0
  • SMA type 1
  • SMA type 2
  • SMA type 3
  • SMA type 4

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.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



Families of Spinal Muscular Atrophy

925 Busse Road

Elk Grove Village, IL 60007

Tel: (847)367-7620

Tel: (800)886-1762

Email: sma@fsma.org

Internet: http://www.fsma.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

Internet: 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

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Jennifer Trust for Spinal Muscular Atrophy

40 Cygnet Court

Timothy's Bridge Road

Stratford upon Avon

Warwickshire, CV37 9NW

United Kingdom

Tel: 4401789267520

Fax: 4401789268371

Tel: 8009753100

Email: office@jtsma.org.uk

Internet: http://www.jtsma.org.uk



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

Internet: http://www.new-horizons.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

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Fight SMA/Spinal Muscular Atrophy

1807 Libbie Avenue

Suite 104

Richmond, VA 23226

Tel: (804)515-0080

Fax: (804)515-0080

Email: CarolineGibson@fightsma.com

Internet: http://www.fightsma.org



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

Internet: http://www.clairealtmanheinefoundation.org



Children with Spinal Muscular Atrophy Ukraine

Gogolia Street 7

Kharkiv, 61057

Ukraine

Tel: 380503640673

Email: info@csma.org.ua

Internet: http://www.csma.org.ua



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

Internet: http://www.smafoundation.org



Child Neurology Foundation

2000 West 98th Street

Bloomington, MN 55431

USA

Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430

Email: jstone@childneurologyfoundation.org

Internet: http://www.childneurologyfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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:  4/10/2012

Copyright  2004, 2005, 2006, 2007, 2008, 2012 National Organization for Rare Disorders, Inc.

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