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

  • 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)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
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: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@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: +44 (0)1789 267 520
Fax: +44 (0)1789 268 371
Tel: (800) 975-3100
Email: jennifer@jtsma.org.uk
Internet: http://www.jtsma.org.uk

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
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: (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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

FightSMA/Andrew's Buddies Corporation
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, #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: (646)253-7106
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: (800)263-5430
Email: jstone@childneurologyfoundation.org
Internet: http://www.childneurologyfoundation.org

For a Complete Report

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

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