Walker-Warburg Syndrome Overview
Learn About Walker-Warburg Syndrome
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 childhood.
Walker-Warburg syndrome can be caused by variants (also called mutations) in at least a dozen genes. The most commonly involved genes were discovered first, including POMT1, POMT2, CRPPA, FKTN, FKRP, and LARGE1. Variants 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.
The prevalence of Walker-Warburg syndrome is unknown. The condition affects an estimated 1 in 100,000 newborns.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
State University Of Iowa
Katherine Mathews is a Neurologist and a Pediatrics provider in Iowa City, Iowa. Dr. Mathews is rated as an Elite provider by MediFind in the treatment of Walker-Warburg Syndrome. Her top areas of expertise are Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, Dystrophinopathy, and Friedreich Ataxia. Dr. Mathews is currently accepting new patients.
Tatsushi Toda practices in Tokyo, Japan. Toda is rated as an Elite expert by MediFind in the treatment of Walker-Warburg Syndrome. Their top areas of expertise are Walker-Warburg Syndrome, Fukuyama Type Muscular Dystrophy, Lissencephaly, Thrombectomy, and Thymectomy.
Mariko Ikeda-Taniguchi practices in Nankoku, Japan. Ms. Ikeda-Taniguchi is rated as an Elite expert by MediFind in the treatment of Walker-Warburg Syndrome. Her top areas of expertise are Walker-Warburg Syndrome, Fukuyama Type Muscular Dystrophy, Lissencephaly, and X-Linked Retinal Dysplasia.
Summary: Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism. Simons Searchlight collects medical, behavioral, learning, and developmental information from people who have these rare genetic changes. The goal of this study is to improve the clinical care and treatment...
Summary: This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).
Published Date: August 11, 2023
Published By: National Institutes of Health