Kugelberg Welander Syndrome

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.
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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville, IL 60048
Tel: (847)367-7620
Fax: (847)367-7623
Tel: (800)886-1762
Email: sma@fsma.org
Internet: http://www.curesma.com

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: 5205292000
Fax: 5205295300
Tel: 8003444863
Email: mda@mdausa.org
Internet: http://www.mdausa.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.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: 0870 7743651
Fax: 0870 7743652
Email: jennifer@jtsma.org.uk
Internet: http://www.jtsma.org.uk

FightSMA (Andrew's Buddies)
1807 Libbie Avenue
Suite 104
Richmond, VA 23226
Tel: (804)515-0080
Fax: (804)515-0081
Email: heatherlennon@fightsma.com
Internet: http://www.FightSMA.org .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

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, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: October 12, 2007

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