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It is possible that the main title of the report Kugelberg Welander Syndrome 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.
Kugelberg Welander syndrome is a milder type of spinal muscular atrophy. It is a rare inherited neuromuscular disorder characterized by wasting and weakness in the muscles of the arms and legs, leading to walking difficulties in, and eventual loss of ambulation. Symptoms of Kugelberg Welander syndrome occur after 12 months of age. Patients learn to walk, may fall frequently and may have trouble walking up and down stairs at 2-3 years of age; some patients will not show functional changes until the teens. The legs are more severely affected than the arms. The long-term prognosis depends on the degree of motor function attained as a child.
Kugelberg Welander syndrome is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA (Werndnig-Hoffman disease, juvenile SMA and Kugelberg-Welander disease) are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. More patients with Werdnig Hoffman disease (SMA1) than other types of SMA have NAIP deletions. The relationship between specific mutations in the SMN gene and nearby genes and the severity of SMA is still being investigated so classification of SMA subdivisions is based on age of onset of symptoms and maximum function achieved as opposed to the genetic profile.
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
40 Cygnet Court
Timothy's Bridge Road
Stratford upon Avon
Warwickshire, CV37 9NW
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
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".
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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
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Last Updated: 3/26/2012
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