Walker-Warburg syndrome
What is Walker-Warburg syndrome?
Walker-Warburg syndrome (WWS) is an inherited condition causing a number of symptoms including muscle weakness, vision abnormalities, brain structure abnormalities, and severe mental disability.
WWS causes congenital muscular dystrophy, a form of muscle weakness that is present from birth or develops shortly after birth. It causes an infant to feel floppy in all of his or her muscles, including those of the face. He or she may also exhibit involuntary muscle jerks or twitches.
Eye problems associated with WWS include blindness and cataracts, among others.
Another hallmark of WWS is a brain abnormality known as cobblestone lissencephaly (or type II lissencephaly). The brain develops a bumpy “cobblestone” appearance and lacks the normal folding structure. Other structural changes in the brain are also present.
How common is Walker-Warburg Syndrome?
WWS is rare; the exact prevalence is unknown.
A survey in northeastern Italy has reported an incidence rate of 1.2 per 100,000 live births. Approximately 1 in 150 individuals of Ashkenazi Jewish descent are carriers.
How is Walker-Warburg Syndrome treated?
There is no successful treatment or cure for WWS. Medical specialists can help treat specific symptoms, such as using medication to control seizures, placement of a shunt to reduce fluid buildup around the brain, tube feeding and physical and occupational therapy to aid in movement.
What is the prognosis for a person with Walker-Warburg Syndrome?
The prognosis for a child affected with WWS is poor. WWS is lethal and the severest form of congenital muscular dystrophy. Children affected with WWS typically die before 3 years of age.
Resources
The CMD International Registry is a patient self-report registry with the goal to register the global congenital muscle disease population which includes congenital myopathy and congenital muscular dystrophy.
1712 Pelican Avenue
San Pedro CA 90732
Phone: (800) 363-2630
counselor@cmdir.org
An all volunteer non-profit organization that funds research on congenital muscular dystrophies.
PO Box 701
Olathe KS 66051
Phone: Olathe KS 66051
info@curecmd.com
A consortium of non-profit organizations that raises awareness of genetic conditions common among Ashkenazi Jews.
450 West End Ave.
New York, NY 10024
Phone: (866) 370-4363
info@jewishgeneticdiseases.org
A non-profit organization that supports research into and education about neuromuscular diseases. It is best known for its annual telethon led by entertainer Jerry Lewis.
3300 East Sunrise Drive
Tucson, AZ 85718
Phone: (800) 572-1717
mda@mdausa.org
Take action now to assess your risk for Waler-Warburg syndrome and your risk for passing it to your children. To get started with a JScreen genetic test, click here.
Source: Counsyl.
