Diseases & Conditions


Spinal Muscular Atrophy

Synonyms of Spinal Muscular Atrophy
  • SMA

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