Wieacker Syndrome

Wieacker Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Wieacker 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

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

Disorder Subdivisions

  • None

General Discussion

Wieacker syndrome is a rare, slowly progressive, genetic disorder characterized by deformities of the joints of the feet (contracture), muscle degeneration (atrophy), mild mental retardation and an impaired ability to move certain muscles of the eyes, face and tongue. Wieacker syndrome is inherited as an X-linked recessive trait.

Symptoms

Symptoms of Wieacker syndrome include stiffening of the muscles and joints of the feet (contracture), slowly progressive atrophy of certain muscles of the legs and arms, 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. In some cases, affected individuals may have droopy eyelids (ptosis), crossed eyes (strabismus), and farsightedness (hyperopia). Abnormal curvature of the spine may also occur (kyphoscoliosis). Wieacker syndrome affects males and is present at birth (congenital).

Causes

Wieacker syndrome is inherited as an X-linked recessive trait. The gene change (mutation) associated with this syndrome has been tracked to a site on the X chromosome (Xq13-q21).



Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosome Xq13-q21" refers to a region on the long arm of the X chromosome between bands 13 and 21. The numbered bands specify the location of the thousands of genes that are present on each chromosome.



X-linked recessive genetic disorders, such as Wieacker syndrome, are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is "turned off" and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is "turned off". A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.

Affected Populations

Wieacker syndrome is a remarkably rare genetic disorder present at birth, affecting males only. As of June 2003, it had been described in several generations of only one family.

Standard Therapies

Diagnosis

In some instances in the history of the family in which the syndrome was first described, the syndrome was present at birth.



Treatment

Treatment is symptomatic and supportive. The syndrome is little understood at this time



Physical therapy, surgery, speech therapy, and special education can be of benefit, especially if started as early as possible. Genetic counseling may be of benefit for the families of children with Wieacker syndrome.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOK

Wieacker PF. Wieacker-Wolff Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:638.



JOURNAL ARTICLES

Kloos DU, Jakubiczka S, Wienker T, et al. Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome. Hum Genet. 1997;100:426-430.



Wieacker P, Wolff G, Wienker TF, Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq. Am J Med Genet. 1987;28:245-53.



Wieacker P, Wolff G, Wienker TF, et al. A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia. Am J Med Genet. 1985;20:597-606.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Wieacker Syndrome. Entry Number; 314580: Last Edit Date;11/10/10. http://omim.org/entry/314580



Wiecker-Wolff syndrome. Orphanet. June, 2007. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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.

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