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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.
Credit
to - www.rarediseases.org
Here are some charities related to Kugelberg Welander Syndrome:
Families
of Spinal Muscular Atrophy
P.O. Box 196
Libertyville, IL 60048
Phone #: 800-886-1762
E-mail: audrey@fsma.org
Home
page: http://www.curema.com
Jennifer Trust for Spinal Muscular Atrophy
Elta
House
Warwickshire None CV37 0AQ
Phone #: 087-0 7-743651
E-mail: jennifer@jtsma.org.uk
Home page: http://www.jtsma.org.uk
March of Dimes Birth Defects Foundation
1275
Mamaroneck Avenue
White Plains, NY 10605
Phone #: 888-663-4637
E-mail: Askus@marchofdimes.com
Home page:
http://www.marchofdimes.com
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