Kugelberg Welander Syndrome / Disease

Diseases & Conditions

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Kugelberg Welander Syndrome

Synonyms of Kugelberg Welander Syndrome

Juvenile spinal muscular atrophy
KWS
SMA3
Spinal muscular atrophy type 3

Disorder Subdivisions

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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Organizations related to Kugelberg Welander Syndrome

Families of Spinal Muscular Atrophy
P.O. Box 196
Libertyville IL 60048
Phone #: 847-367-7620
800 #: 800-886-1762
e-mail: sma@fsma.org
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: heatherlennon@fightsma.com
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: jennifer@jtsma.org.uk
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: mums@netnet.net
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: getinfo@madisonsfoundation.org
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: Askus@marchofdimes.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: mda@mdausa.org
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: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/

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