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$Unique_ID{BRK03913}
$Pretitle{}
$Title{Kugelberg-Welander Syndrome}
$Subject{Kugelberg-Welander Syndrome Juvenile Spinal Muscular Atrophy Spinal
Muscular Atrophy KWS SMA III Werdnig-Hoffmann Disease }
$Volume{}
$Log{}

Copyright (C) 1988, 1989, 1992 National Organization for Rare Disorders,
Inc.

536:
Kugelberg-Welander Syndrome

** IMPORTANT **
It is possible that the main title of the article (Kugelberg-Welander
Syndrome) is not the name you expected.  Please check the synonym list to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     Juvenile Spinal Muscular Atrophy
     Spinal Muscular Atrophy
     KWS
     SMA III

Information on the following diseases can be found in the Related
Disorders section of this report:

     Werdnig-Hoffmann Disease

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Kugelberg-Welander Syndrome is a rare inherited disorder.  Major symptoms
may include wasting and weakness in the muscles of the arms and legs,
twitching, clumsiness in walking, and eventual loss of reflexes.  Kugelberg-
Welander Syndrome is not apparent at birth, it usually appears during the
first ten to twenty years of life.

Symptoms

People with Kugelberg-Welander Syndrome experience muscle wasting which
causes the back to bend forward, difficulty in walking or climbing stairs and
trouble arising from a lying position.  This may also be accompanied by
muscle twitching, slowed reflexes, and sometimes, loss of bowel control.  Eye
muscles are sometimes affected causing extreme nearsightedness and decreased
vision.  Occasionally the heart muscles are affected causing irregularities
in the heart's rhythm.

Causes

This disorder is believed to be caused by the breaking down of motor nerve
cells in the front part of the brain.  Kugelberg-Welander Syndrome is usually
inherited as an autosomal recessive trait.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from each parent.  If one receives one
normal gene and one gene for the disease, the person will be a carrier for
the disease, but usually will show no symptoms.  The risk of transmitting the
disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent.  Fifty percent of their children
will be carriers, but healthy as described above.  Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.

Scientists think that Kugelberg-Welander Syndrome may occasionally be an
autosomal dominant, or an x-linked recessive trait.

In dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

X-linked recessive disorders are conditions which are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Therefore in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome.  Since
males have only one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed.  Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.

Affected Population

Kugelberg-Welander Syndrome tends to affect males more often than females.
The symptoms are often milder in women than in men.

Related Disorders

Symptoms of the following disorder can be similar to those of Kugelberg-
Welander Syndrome.  Comparisons may be useful for a differential diagnosis:

Werdnig-Hoffmann Disease is a rare hereditary disease.  It is a severe and
usually rapidly progressive neuromuscular disorder of infants.  It is
characterized by a generalized flaccid and symmetrical atrophy and weakness
of the muscles of the trunk and extremities.  These symptoms occur as a result
of degenerative changes in the ventral horn cells of the spinal cord.  This
weakness, referred to as the amyotonia congenital syndrome, is also found in
other neuromuscular diseases.  (For more information on this disorder, choose
"Werdnig-Hoffmann Disease" as your search term in the Rare Disease Database).

Therapies:  Standard

Treatment of Kugelberg-Welander Syndrome is aimed at alleviating the
symptoms.  In most cases physical therapy and orthopedic devices may be
prescribed.  If the patient's heart muscles have been affected by atrophy, a
cardiac pacemaker may be implanted.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

Recently scientists have been investigating the use of lithium carbonate as a
treatment for Kugelberg-Welander Syndrome.  It is hoped that this drug may
steady the progress of the disease.  However, more research is needed before
the benefits and side effects of this treatment can be determined.

The orphan product, Ciliary Neurotrophic Factor, Recombinant Human, is
being tested by the FDA.  The product is used to treat spinal musvcular
atrophies and is sponsored by Syntex-Synergen Neuroscience, 1885 - 33rd St.,
Boulder, CO, 80301.

The orphan product Ciliary Neurotrophic Factor Recombinant Human is under
investigation for the treatment of the spinal muscular atrophies.  The
product is sponsored by Syntex-Synergen Neuroscience, 1885 - 33rd St.,
Boulder, CO, 80301.

This disease entry is based upon medical information available through
September 1992.  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.

Resources

For more information on Kugelberg-Welander Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Families of Spinal Muscular Atrophy
     P.O. Box 1465
     Highland Park, IL 60035
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

This Rare Disease Database entry is based upon outlines prepared by medical
and dental students (1984-1986) at the Medical College of Virginia for their
course in human genetics, and the following articles:

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick;  Johns
Hopkins University Press, 1986.  Pp. 1137.

LATE ONSET SPINAL MUSCLE ATROPHY--A SEX LINKED VARIANT OF KUGELBERG-
WELANDER:  G.W. Paulson, et al.; Acta Neurol Scand (January, 1980 issue 61
(1)).  Pp. 49-55.

CHRONIC PROXIMAL SPINAL MUSCULAR ATROPHY OF CHILDHOOD AND ADOLESCENCE:  SEX
INFLUENCE:  I.  Hausmanowa-Petrusewicz, et al.; J Med Genet (December, 1984
issue 21 (6)).  Pp. 447-450.

IS KUGELBERG-WELANDER SPINAL MUSCULAR ATROPHY A FETAL DEFECT?:  I.
Hausmanowa-Petrusewicz, et al.; Muscle Nerve (September-October, 1980 issue
3 (5)).  Pp. 389-402.

OCULAR FINDINGS IN A PATIENT WITH KUGELBERG-WELANDER SYNDROME:  P. H.
Wallar, et al.; J Pediatr Ophthalmol Strabismus (January-February, 1978 issue
15 (1)).  Pp. 15-18.