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$Title{Wieacker Syndrome}
$Subject{Wieacker Syndrome Wieacker-Wolff Syndrome WWS Contractures of Feet
Muscle Atrophy Oculomotor Apraxia Apraxia Oculomotor with Congenital
Contractures Muscle Atrophy Apraxia }
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Copyright (C) 1991 National Organization for Rare Disorders, Inc.

824:
Wieacker Syndrome

** IMPORTANT **
It is possible that the main title of the article (Wieacker Syndrome) is
not the name you expected.  Please check the SYNONYM listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Wieacker-Wolff Syndrome
     WWS
     Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia
     Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy

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

     Apraxia

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.

Wieacker Syndrome is a rare genetic disorder characterized by deformities
of the feet (contracture), muscle atrophy, mild mental retardation and
impairment of the ability to move the eyes, face and tongue muscles despite
the wish to do so.

Symptoms

Symptoms of Wieacker Syndrome include deformities of the feet (contracture),
slowly progressive atrophy of certain muscles, and mild mental retardation.
Other symptoms are impairment or inability to move the eyes despite the wish
to do so, and impairment in the use of face and tongue muscles.  Wieacker
Syndrome affects males and is present at birth.

Causes

Wieacker Syndrome is inherited as an X-linked recessive trait.  Human traits,
including the classic genetic diseases, are the product of the interaction of
two genes, one received from the father and one from the mother.

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 only have 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

Wieacker Syndrome is a rare genetic disorder present at birth which affects
males.

Related Disorders

Symptoms of the following disorders can be similar to those of Wieacker
Syndrome.  Comparisons may be useful for a differential diagnosis:

Apraxia is a disorder of brain function characterized by the inability to
perform learned movement on command, even though the command is understood
and there is a willingness to perform the movement.  The affected individual
has the physical ability to move, but can not.  Apraxia is caused by a lesion
in the neural pathways of the brain that contain the learned patterns of
movement.  It is often a symptom of other neurological disorders.  (For more
information on this disorder, choose "Apraxia" as your search term in the
Rare Disease Database).

Therapies:  Standard

Genetic counseling may be of benefit for patients with Wieacker Syndrome and
their families.  Other treatment is symptomatic and supportive.  Physical
therapy, surgery, speech therapy, and special education can be of benefit
especially if started as early as possible.

Therapies:  Investigational

Researchers believe that Wieacker Syndrome originates from the long arm of
the X chromosome.  Genetic studies and research on this disorder are ongoing.
Detection of the female carrier condition may be possible in some instances.

This disease entry is based upon medical information available through
February 1991.  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 Wieacker Syndrome, please contact:

     National Organization for Rare Disorders
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     203) 746-6518

     The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
     Box AMS
     Bethesda, MD  20892
     (301) 495-4484

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     (301) 496-5751
     (800) 352-9424

For genetic information and genetic counseling referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     (914) 428-7100

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     (301) 652-5553

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1990.  Pp. 1732.

A NEW X-LINKED SYNDROME WITH MUSCLE ATROPHY, CONGENITAL CONTRACTURES, AND
OCULOMOTOR APRAXIA.  P. Wieacker, et al.; Am J Med Genet (Apr 1985; issue 20
(4)).  Pp. 597-606.

CLOSE LINKAGE OF THE WIEACKER-WOLFF SYNDROME TO THE DNA SEGMENT DXYS IN
PROXIMAL Xq.  P. Wieacker, et al.; Am J Med Genet (Sept 1987; issue 28 (1)).
Pp. 245-253.