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.
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Families of Spinal Muscular Atrophy
925 Busse Road
Elk Grove Village, IL 60007
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Jennifer Trust for Spinal Muscular Atrophy
Stratford upon Avon
Warwickshire, CV37 0AQ
Tel: +44 (0)1789 267 520
Fax: +44 (0)1789 268 371
Tel: (800) 975-3100
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Fight SMA/Spinal Muscular Atrophy
1807 Libbie Avenue
Richmond, VA 23226
Claire Altman Heine Foundation, Inc.
1112 Montana Avenue, #372
Santa Monica, CA 90403
Children with Spinal Muscular Atrophy Ukraine
Gogolia Street 7
Tel: +38 (050) 364-06-73
Spinal Muscular Atrophy Foundation
888 Seventh Avenue
New York, NY 10019
Child Neurology Foundation
2000 West 98th Street
Bloomington, MN 55431
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.
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Last Updated: 11/25/2008
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