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
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville, IL 60048
Tel: (847)367-7620
Fax: (847)367-7623
Tel: (800)886-1762
Email: sma@fsma.org
Internet: http://www.curesma.com

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: 5205292000
Fax: 5205295300
Tel: 8003444863
Email: mda@mdausa.org
Internet: 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
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: 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
Email: jennifer@jtsma.org.uk
Internet: 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: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee, WI 53202
USA
Tel: 4142990124
Fax: 4143471977
Email: horizons@new-horizons.org
Internet: 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
Email: heatherlennon@fightsma.com
Internet: 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
Email: deb@preventsma.org
Internet: http://www.preventsma.org

Children with Spinal Muscular Atrophy Ukraine
Gogolia Street 7
Kharkiv, 61057
Ukraine
Tel: +38 (050) 364-06-73
Email: info@csma.org.ua
Internet: http://www.csma.org.ua

Spinal Muscular Atrophy (SMA) Foundation
888 Seventh Avenue
Suite 400
New York, NY 10019
USA
Tel: 6462537106
Fax: 2122473079
Tel: 8773863762
Email: info@smafoundation.org
Internet: 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, 2008National Organization for Rare Disorders, Inc.