Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions known as congenital muscular dystrophies, which cause muscle weakness and wasting (atrophy) beginning very early in life. The signs and symptoms of Walker-Warburg syndrome are present at birth or in early infancy. Because of the severity of the problems caused by Walker-Warburg syndrome, most affected individuals do not survive past age 3.
Walker-Warburg syndrome can be caused by mutations in at least a dozen genes. The most commonly mutated genes were discovered first, including POMT1, POMT2, CRPPA, FKTN, FKRP, and LARGE1. Mutations in these genes are found in about half of individuals with Walker-Warburg syndrome. Other genes, some of which have not been identified, are also involved in development of this condition.
Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Tatsushi Toda practices in Tokyo, Japan. Toda is rated as an Elite expert by MediFind in the treatment of Walker-Warburg Syndrome. They are also highly rated in 38 other conditions, according to our data. Their top areas of expertise are Neuronal Intranuclear Inclusion Disease NIID, Fukuyama Type Muscular Dystrophy, Walker-Warburg Syndrome, and Lissencephaly.
Keiko Ishigaki practices in Tokyo, Japan. Ishigaki is rated as an Elite expert by MediFind in the treatment of Walker-Warburg Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Walker-Warburg Syndrome, Hydrocephalus Autosomal Recessive, X-Linked Retinal Dysplasia, and Fukuyama Type Muscular Dystrophy.
Mariko Ikeda-Taniguchi practices in Toyoake, Japan. Ikeda-Taniguchi is rated as an Elite expert by MediFind in the treatment of Walker-Warburg Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Walker-Warburg Syndrome, Fukuyama Type Muscular Dystrophy, Lissencephaly, and X-Linked Retinal Dysplasia.
Published Date: January 01, 2017Published By: National Institutes of Health