February 16, 2016: Walker-Warburg syndrome
February 16, 2016
The Walker-Warburg syndrome is an autosomal recessive congenital muscular dystrophy with an incidence of 1.2 per 100,000 live births.1 The disorder is named after Arthur Earl Walker, a surgeon, and Mette Warburg, an ophthalmologist. Patients will present in the neonatal period with hypotonia, weakness, and less commonly seizures. Diagnosis is further based upon an elevated creatine kinase, anterior or posterior eye defects, and neuroimaging findings of lissencephaly, cerebellar hypoplasia, and hydrocephalus. Biochemically, Walker-Warburg is associated with defective alpha-dystroglycan and novel therapeutic strategies include gene replacement.2 Management however, remains supportive with most children dying within the first few months of life.
- Vajsar, J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Ris 2006; 1: 29.
- Xu L, Lu P, Wang C, et al. Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of alpha-dystroglycan and improves muscle function. Mol Ther 2013; 21: 1832-1840.
Submitted by Adam Numis, MD, Department of Neurology, University of California, Los Angeles.
Disclosures: Dr. Numis is a member of the Resident and Fellow Section of Neurology.