Walker–Warburg syndrome

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Walker–Warburg syndrome
Other namesHARD syndrome,Warburg syndrome
Walker–Warburg syndrome has an autosomal recessive pattern of inheritance.
SpecialtyOphthalmology, neurology, medical genetics Edit this on Wikidata

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),

congenital muscular dystrophy.[2] It is associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities.[3] This condition has a worldwide distribution. Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns worldwide.[4]

Presentation

The clinical manifestations present at birth are generalized

seizures.[5]
The congenital muscular dystrophy is characterized by hypoglycosylation of α-dystroglycan. Those born with the disease also experience severe ocular and brain defects. Half of all children with WWS are born with encephalocele, which is a gap in the skull that will not seal. The meninges of the brain protrude through this gap due to the neural tube failing to close during development. A malformation of the a baby's cerebellum is often a sign of this disease. Common ocular issues associated with WWS are abnormally small eyes and retinal abnormalities cause by an underdeveloped light-sensitive area in the back of the eye.[6]

Genetics

Several genes have been implicated in the etiology of Walker–Warburg syndrome,

O-Mannosyltransferase POMT1 and POMT2 genes, and one mutation was found in each of the fukutin and fukutin-related protein genes. Another gene that has been linked to this condition is Beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2).[8]

Diagnosis

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.[9]

Prognosis

No specific treatment is available. Management is only supportive and preventive. Those who are diagnosed with the disease often die within the first few months of life. Almost all children with the disease die by the age of three.[9]

Eponym

WWS is named for Arthur Earl Walker and Mette Warburg (1926-2015), a Danish ophthalmologist.[10][11][12] Its alternative names include Chemke’s syndrome and Pagon’s syndrome, named after Juan M. Chemke and Roberta A. Pagon.[13]

References

  1. ^ Online Mendelian Inheritance in Man (OMIM): 236670
  2. PMID 16887026
    .
  3. ^ "Walker-Warburg syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-09.
  4. ^ "Walker-Warburg syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2023-03-14.
  5. ^ Reference, Genetics Home. "Walker-Warburg syndrome". Genetics Home Reference. Retrieved 2018-04-17.
  6. ^ Weiss, Thomas C.. "Walker-Warburg Syndrome - Facts and Information." Disabled World. N.p., 6 Mar. 2010. Web. 8 Dec. 2013. <http://www.disabled-world.com/disability/types/mobility/md/walker-warburg.php>.
  7. PMID 12369018
    .
  8. ^ Maroofian R, Riemersma M, Jae LT, Zhianabed N, Willemsen MH, Wissink-Lindhout WM, Willemsen MA, de Brouwer APM, Mehrjardi MYV, Ashrafi MR, Kusters B, Kleefstra T, Jamshidi Y, Nasseri M, Pfundt R, Brummelkamp TR, Abbaszadegan MR, Lefeber DJ, van Bokhoven H (2017) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome Med 9(1):118. doi: 10.1186/s13073-017-0505-2
  9. ^
    PMID 16887026
    .
  10. Who Named It?
  11. doi:10.1001/archneurpsyc.1942.02290070023002
    .
  12. PMID 4950916
    .
  13. ^ "Walker-Warburg syndrome".

Further reading

External links

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