Walker–Warburg syndrome

The Walker - Warburg syndrome ( WWS ) is a muscle disorder that belongs to the group of the Dystroglykanopathien Congenital Muscular or to its subgroup. It is a rare genetic disease that is inherited as an autosomal recessive trait.

The Walker - Warburg syndrome is genetically heterogeneous. Various mutations in a total of six different genes have been found to lead to Walker-Warburg phenotype. Clinically, the Walker - Warburg syndrome is characterized by severe muscular dystrophy and malformations of the brain and the eyes. Symptoms of the disease are evident at birth. The condition leads within the first two to three years of life to death. A causal therapy is not known.

Cause

The Walker-Warburg syndrome is caused by genetic mutations and is inherited as an autosomal recessive trait. There are several mutations in a total of six different genes are known whose gene products are the same proteins: POMT1 (protein O- mannosyl transferase 1), POMT2 (protein O- mannosyl -transferase 2), POMGNT1 (protein O -linked mannose beta-1 ,2- N- acetylglucosaminyltransferase 1) Fukutin, FKRP ( Fukutin related protein ) and LARGE ( glycosyltransferase -like protein large1 ).

OMIM classification

According to the latest classification of Online Mendelian Inheritance in Man from the year 2011, the Walker - Warburg syndrome and the somewhat milder muscle - eye-brain disease (Muscle -Eye -Brain Disease MEB ), in which mutations in the same 6 must be verified genes is summarized to a group of diseases called Congenital Muscular Dystrophy and - Dystroglycanopathy with Brain and Eye Anomalies Type a ( MDDGA ). Depending on the gene affected by the disease are numbered 1-6:

  • MDDGA1: POMT1
  • MDDGA2: POMT2
  • MDDGA3: POMGNT1
  • MDDGA4: Fukutin
  • MDDGA5: Fukutin related protein ( FKRP )
  • MDDGA6: large1

History of Medicine

The Walker - Warburg syndrome was named after Arthur Earl Walker and Mette Warburg. Walker described the syndrome for the first time in 1942. Warburg published 1972, a second work about the syndrome with recent findings.

Fukutin-related protein Digital Object Identifier Orphanet Neurology (journal) Journal of Medical Genetics JAMA Neurology
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