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Walker–Warburg syndrome

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Walker–Warburg syndrome
Classification and external resources
OMIM 236670
DiseasesDB 29495

Walker–Warburg syndrome (WWS), also called Warburg syndrome, Chemke syndrome, HARD syndrome (Hydrocephalus, Agyria and Retinal Dysplasia), Pagon syndrome, cerebroocular dysgenesis (COD) or cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD),[1] is a rare form of autosomal recessive congenital muscular dystrophy.[2] It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. This condition has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.

CharacteristicsEdit

The clinical manifestations present at birth are generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. The congenital muscular dystrophy is characterized by hypoglycosylation of α-dystroglycan.

Cause and GeneticsEdit

Autorecessive

Walker–Warburg syndrome has an autosomal recessive pattern of inheritance.

Several genes have been implicated in the etiology of Walker–Warburg syndrome,[3] and others are as yet unknown. Several mutations were found in the protein O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes.

DiagnosisEdit

Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered α-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown.

PrognosisEdit

No specific treatment is available. Management is only supportive and preventive.

EponymEdit

WWS is named for Arthur Earl Walker and Mette Warburg (1923- ), a Danish Ophthalmologist.[4][5][6] Its alternative names include Chemke’s syndrome and Pagon’s syndrome; named after Juan M. Chemke and Roberta A. Pagon.[7]

References Edit

  1. OMIM 236670
  2. Vajsar J, Schachter H (2006). Walker–Warburg syndrome. Orphanet J Rare Dis 1: 29.
  3. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al. (November 2002). Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker–Warburg syndrome. Am. J. Hum. Genet. 71 (5): 1033–43.
  4. Who Named It synd/1202
  5. Walker AE (1942). Lissencephaly. Archives of Neurology and Psychiatry 48: 13–29.
  6. Warburg M (March 1971). The heterogeneity of microphthalmia in the mentally retarded. Birth Defects Orig. Artic. Ser. 7 (3): 136–54.
  7. http://www.whonamedit.com/synd.cfm/1202.html

External linksEdit


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