Walker Warburg syndrome is a brain and eye congenital muscular dystrophy with an autosomal recessive inheritance pattern. It is characterized by type 2 lissencephaly, hydrocephalus, cerebellar dysfunction, and retinal dysplasia. The disease presents with general muscle hypotonia, mental retardation with subsequent developmental delay, intermittent seizures, occasional cataracts with microphthalmia. The disease is thought to manifest due to mutations of the Protein O MannosylTransferase 1 and 2 as well as the fukutin protein genes leading to hypoglycosylation of the alpha-dystroglycan, a transmembrane linking protein of the extracellular matrix. Lab results generally show elevated creatine kinase and altered alpha dystroglycan. Treatment is only supportive and preventative.