Spinal Muscular Atrophy / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Spinal Muscular Atrophy

Synonyms of Spinal Muscular Atrophy

Disorder Subdivisions

arthrogryposis multiplex congenita-SMA (SMA type 0)
Finkel type SMA
Kugelberg-Welander disease or juvenile SMA (SMA type III)
mild child and adolescent SMA (SMA type II)
prenatal onset SMA (SMA type 0)
spinal muscular atrophy type 4 (SMA type IV)
Werdnig-Hoffman disease or infantile muscular atrophy (SMA type I)

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.

Organizations related to Spinal Muscular Atrophy

Children with Spinal Muscular Atrophy Ukraine
Gogolia Street 7
Kharkiv None 61057
Phone #: +38- (0-50) 364-06-73
800 #: N/A
e-mail: [email protected]
Home page: http://www.csma.org.ua
Claire Altman Heine Foundation, Inc.
1112 Montana Avenue
Santa Monica CA 90403
Phone #: 310-260-3262
800 #: N/A
e-mail: [email protected]
Home page: http://www.preventsma.org
Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville IL 60048
Phone #: 847-367-7620
800 #: 800-886-1762
e-mail: [email protected]
Home page: http://www.curesma.com
FightSMA (Andrew's Buddies)
1807 Libbie Avenue
Richmond VA 23226
Phone #: 804-515-0080
800 #: N/A
e-mail: [email protected]
Home page: http://www.FightSMA.org .org
Jennifer Trust for Spinal Muscular Atrophy
Elta House
Warwickshire None CV37 0AQ
Phone #: 087-0 7-743651
800 #: --
e-mail: [email protected]
Home page: 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
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: [email protected]hofdimes.com
Home page: http://www.marchofdimes.com
Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson AZ 85718
Phone #: 520-529-2000
800 #: 800-344-4863
e-mail: [email protected]
Home page: http://www.mdausa.org
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: [email protected]
Home page: http://www.ninds.nih.gov/
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Milwaukee WI 53202
Phone #: 414-299-0124
800 #: N/A
e-mail: [email protected]
Home page: http://www.new-horizons.org
Spinal Muscular Atrophy (SMA) Foundation
888 Seventh Avenue
New York NY 10019
Phone #: 646-253-7106
800 #: 877-386-3762
e-mail: [email protected]
Home page: 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