NORD gratefully acknowledges Christopher A. Walsh, MD, PhD, Chief, Division of Genetics and Genomics, Boston Children's Hospital, Bullard Professor of Neurology and Pediatrics, Harvard Medical School; M. Chiara Manzini, PhD, Department of Pharmacology and Physiology, The George Washington University School of Medicine and Health Sciences; and Haley Hill, Jennifer N. Partlow, MS, CGC and Brenda Barry, MS, CGC, from Boston Children's Hospital for assistance in the update and preparation of this report.
Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain structures including the cerebellum and brain stem, (2) various developmental abnormalities of the eye and (3) progressive degeneration and weakness of the voluntary muscles (congenital muscular dystrophy). WWS often leads to death in the first year of life, however, the specific symptoms and severity can vary greatly from person to person. WWS demonstrates autosomal recessive inheritance, with a recurrence risk of 1 in 4, or 25%, for a couple who has previously had a child diagnosed with this genetic condition.
WWS is a form of congenital muscular dystrophy (CMD), which is a broad spectrum of over 30 disorders characterized by weakness and atrophy of various voluntary muscles of the body. These disorders affect different muscles, can have other body systems involved, and have different ages of onset, severity and inheritance patterns. Several forms of CMD are grouped under the name dystroglycanopathies, due to functional defects in the dystroglycan protein described below. WWS is the most severe dystroglycanopathy.
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