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Kugelberg Welander Syndrome

Abstract

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NORD is very grateful to Barry S. Russman, MD, Professor of Pediatrics and Neurology, Oregon Health Sciences University and Shriners Hospital for Children-Portland, for assistance in the preparation of this report.

Synonyms of Kugelberg Welander Syndrome

KWS
SMA3
spinal muscular atrophy type 3

Disorder Subdivisions

No subdivisions found.

General Discussion

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.

Organizations related to Kugelberg Welander Syndrome

Families of Spinal Muscular Atrophy
- 925 Busse Road
- Elk Grove Village, IL 60007
- Phone #: 847-367-7620
- 800 #: 800-886-1762
- e-mail: sma@fsma.org
- Home page: http://www.fsma.org/
Fight SMA/Spinal Muscular Atrophy
- 1807 Libbie Avenue
- Suite 104
- Richmond, VA 23226
- Phone #: 804-515-0080
- 800 #: N/A
- e-mail: CarolineGibson@fightsma.com
- Home page: http://www.fightsma.org
Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Jennifer Trust for Spinal Muscular Atrophy
- 40 Cygnet Court
- Timothy's Bridge Road
- Stratford upon Avon
- Warwickshire, CV37 9NW United Kingdom
- Phone #: 440-178-9267520
- 800 #: 800-975-3100
- e-mail: office@jtsma.org.uk
- Home page: http://www.jtsma.org.uk
Madisons Foundation
- PO Box 241956
- Los Angeles, CA 90024
- Phone #: 310-264-0826
- 800 #: N/A
- e-mail: getinfo@madisonsfoundation.org
- Home page: http://www.madisonsfoundation.org
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Phone #: 914-997-4488
- 800 #: 888-663-4637
- e-mail: Askus@marchofdimes.com
- Home page: http://www.marchofdimes.com
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
Muscular Dystrophy Association
- 3300 East Sunrise Drive
- Tucson, AZ 85718-3208 USA
- Phone #: 520-529-2000
- 800 #: 800-572-1717
- e-mail: mda@mdausa.org
- Home page: http://www.mda.org/
NIH/National Institute of Neurological Disorders and Stroke
- P.O. Box 5801
- Bethesda, MD 20824
- Phone #: 301-496-5751
- 800 #: 800-352-9424
- e-mail: N/A
- Home page: http://www.ninds.nih.gov/

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