Walker–Warburg syndrome

Walker–Warburg syndrome
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.

Contents

Characteristics

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 Genetics

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.

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.

Prognosis

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

Eponym

WWS is named for Arthur Earl Walker and Mette Warburg.[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

  1. ^ Online 'Mendelian Inheritance in Man' (OMIM) 236670
  2. ^ Vajsar J, Schachter H (2006). "Walker–Warburg syndrome". Orphanet J Rare Dis 1: 29. doi:10.1186/1750-1172-1-29. PMC 1553431. PMID 16887026. http://www.ojrd.com/content/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. doi:10.1086/342975. PMC 419999. PMID 12369018. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60398-X. 
  4. ^ synd/1202 at Who Named It?
  5. ^ Walker AE (1942). "Lissencephaly". Archives of Neurology and Psychiatry (Chicago) 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. PMID 4950916. 
  7. ^ http://www.whonamedit.com/synd.cfm/1202.html

External links

v · d · eDiseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
Neuromuscular-
junction disease
autoimmune (Myasthenia gravis, Lambert–Eaton myasthenic syndrome)
Myopathy/
congenital myopathy
AD
AR
Limb-girdle muscular dystrophy 2 · Congenital (Fukuyama, Ullrich, Walker–Warburg)
Other structural
Hypokalemic (Thyrotoxic) · Hyperkalemic
Other
MELAS · MERRF · KSS · PEO
Other

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)

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Look at other dictionaries:

  • Walker-Warburg syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29495 ICD10 = ICD9 = ICDO = OMIM = 236670 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Walker Warburg syndrome is a rare form of autosomal recessive congenital muscular dystrophy… …   Wikipedia

  • Walker-Warburg syndrome — Walk·er War·burg syndrome (wawkґər vahrґboorg) [A.E. Walker; Mette Warburg, Danish ophthalmologist, 20th century] see under syndrome …   Medical dictionary

  • Walker-Warburg syndrome — a congenital syndrome, usually fatal before the age of one year, consisting of hydrocephalus, agyria, various ocular anomalies such as retinal dysplasia, corneal opacity, and microphthalmia, and sometimes an encephalocele. Called also Walker… …   Medical dictionary

  • Syndrome de walker-warburg — Autre nom Voir article Référence MIM …   Wikipédia en Français

  • Syndrome de Walker-Warburg — Référence MIM 236670 Transmission Récessive Chromosome 9q34.1 Gène POMT1 POMT2 Empreinte parentale Non …   Wikipédia en Français

  • Walker-Warburg-Syndrom — Klassifikation nach ICD 10 G71.2 Angeborene Myopathien …   Deutsch Wikipedia

  • Warburg syndrome — War·burg syndrome (vahrґboorg) [Mette Warburg, Danish ophthalmologist, born 1926] Walker Warburg syndrome …   Medical dictionary

  • Warburg syndrome — Walker Warburg s …   Medical dictionary

  • Síndrome de Walker-Warburg — Clasificación y recursos externos OMIM 236670 DiseasesDB 29495 …   Wikipedia Español

  • Walker lissencephaly — Walker Warburg syndrome …   Medical dictionary

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