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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 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).
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.
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.
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.)
In some instances in the history of the family in which the syndrome was first described, the syndrome was present at birth.
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.
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Wieacker PF. Wieacker-Wolff Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:638.
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
Report last updated: 2012/01/05 00:00:00 GMT+0