What is Walker-Warburg Syndrome, CRPPA-Related?
Walker-Warburg Syndrome, CRPPA-Related is an inherited disorder that affects many parts of the body, especially the brain, eyes, and muscles. Signs and symptoms are often present before birth but sometimes start in infancy and include weak muscle tone (hypotonia), excess fluid on the brain (hydrocephalus), severe brain abnormalities, and eye defects with vision problems. Infants and children with Walker-Warburg Syndrome, CRPPA-Related have worsening muscle weakness, problems with movement and coordination, seizures, and severe developmental delay with intellectual disability. Although symptoms vary from person to person, lifespan is usually shortened with death often occurring in early childhood. Currently, there is no cure or specific treatment for this disorder. Rarely, mutations in the same gene pair cause a related condition called Limb-Girdle Muscular Dystrophy, Type 2U. Limb-Girdle Muscular Dystrophy, Type 2U causes severe muscle weakness in the shoulder and hip areas along with muscle pain during exertion that usually starts in childhood. The information below is about Walker-Warburg Syndrome, CRPPA-Related, the more common condition. However, the inheritance pattern and reproductive options listed below apply to Limb-Girdle Muscular Dystrophy, Type 2U as well.
What causes Walker-Warburg Syndrome, CRPPA-Related?
Walker-Warburg Syndrome, CRPPA-Related is caused by a change, or mutation, in both copies of the CRPPA (ISPD) gene pair. These mutations cause the genes to not work properly or not work at all. When both copies of the CRPPA (ISPD) gene do not work correctly, it leads to the symptoms described above. It is sometimes, but not always, possible to determine whether a specific mutation in the CRPPA (ISPD) gene will cause Walker-Warburg Syndrome, CRPPA-Related or Limb-Girdle Muscular Dystrophy, Type 2U.