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Kugelberg Welander Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • Juvenile spinal muscular atrophy
  • KWS
  • SMA3
  • Spinal muscular atrophy type 3

Disorder Subdivisions

  • None

General Discussion

Kugelberg Welander syndrome is a 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, twitching, clumsiness in walking, and eventual loss of reflexes. Symptoms of Kugelberg Welander syndrome occur after 12 months of age. Patients learn to walk but fall frequently and have trouble walking up and down stairs at 2-3 years of age. 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 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 as opposed to the genetic profile.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Families of Spinal Muscular Atrophy
925 Busse Road
Elk Grove Village, IL 60007
Tel: (847)367-7620
Tel: (800)886-1762
Email: sma@fsma.org
Internet: http://www.fsma.org/

Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Jennifer Trust for Spinal Muscular Atrophy
Elta House
Birmingham Road
Stratford upon Avon
Warwickshire, CV37 0AQ
United Kingdom
Tel: +44 (0)1789 267 520
Fax: +44 (0)1789 268 371
Tel: (800) 975-3100
Email: jennifer@jtsma.org.uk
Internet: http://www.jtsma.org.uk

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Fight SMA/Spinal Muscular Atrophy
1807 Libbie Avenue
Suite 104
Richmond, VA 23226
Tel: (804)515-0080
Fax: (804)515-0080
Email: CarolineGibson@fightsma.com
Internet: http://www.fightsma.org

For a Complete Report

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  10/12/2007
Copyright  1988, 1989, 1992, 1995, 1996, 1997, 2000, 2003 National Organization for Rare Disorders, Inc.

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