Walker-Warburg syndrome: Difference between revisions
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| OMIM = 236670 | |||
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==Overview== | ==Overview== | ||
'''Walker-Warburg syndrome''' is a rare form of autosomal recessive [[congenital muscular dystrophy]] 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. | '''Walker-Warburg syndrome''' is a rare form of autosomal recessive [[congenital muscular dystrophy]] associated with brain ([[lissencephaly]], [[hydrocephalus]], cerebellar malformations) and [[eye]] abnormalities. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. | ||
[[Image:autorecessive.jpg|thumb|left|Walker-Warburg syndrome is inherited in an [[Recessive gene|autosomal recessive]] pattern.]] | ==Epidemiology and Demographics== | ||
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. | |||
==Pathophysiology== | |||
===Genetics=== | |||
[[Image:autorecessive.jpg|thumb|left|Walker-Warburg syndrome is inherited in an [[Recessive gene|autosomal recessive]]pattern.]] | |||
Several genes have been implicated in the etiology of Walker-Warburg syndrome, and others are as yet unknown. Several mutations were found in the protein O-Mannosyltransferase 1 and 2 genes, and one mutation was found in each of the [[fukutin]] and[[fukutin-related protein]] genes. | |||
Several genes have been implicated in the etiology of Walker-Warburg syndrome, and others are as yet unknown. Several mutations were found in the protein O-Mannosyltransferase 1 and 2 | |||
==Diagnosis== | ==Diagnosis== | ||
Laboratory | ===Symptoms=== | ||
Developmental delay with [[mental retardation]] | |||
== | [[Seizures]] ocassionaly | ||
===Physical Examination=== | |||
====Neurologic==== | |||
Generalized [[hypotonia]] at birth | |||
Muscle weakness | |||
===Laboratory Findings=== | |||
Elevated [[creatine kinase]] | |||
Myopathic/dystrophic muscle pathology and altered α-dystroglycan. | |||
===Prenatal Ultrasound=== | |||
May be helpful for diagnosis in families where the molecular defect is unknown. | |||
==Treatment== | |||
No specific treatment is available. Management is only supportive and preventive. | No specific treatment is available. Management is only supportive and preventive. | ||
== References == | == References == | ||
* {{cite journal |author=Vajsar J, Schachter H |title=Walker-Warburg syndrome |journal=Orphanet journal of rare diseases |volume=1 |issue= |pages=29 |year=2006 |pmid=16887026 |doi=10.1186/1750-1172-1-29}}[http://www.ojrd.com/content/pdf/1750-1172-1-29.pdf free fulltext PDF] | * {{cite journal |author=Vajsar J, Schachter H |title=Walker-Warburg syndrome |journal=Orphanet journal of rare diseases |volume=1 |issue= |pages=29 |year=2006 |pmid=16887026 |doi=10.1186/1750-1172-1-29}}[http://www.ojrd.com/content/pdf/1750-1172-1-29.pdf free fulltext PDF] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
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[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Disease]] | |||
[[fr:Syndrome de Walker-Warburg]] | [[fr:Syndrome de Walker-Warburg]] | ||
Revision as of 16:49, 27 July 2012
| Walker-Warburg syndrome | |
| OMIM | 236670 |
|---|---|
| DiseasesDB | 29495 |
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Overview
Walker-Warburg syndrome is a rare form of autosomal recessive congenital muscular dystrophy associated with brain (lissencephaly, hydrocephalus, cerebellar malformations) and eye abnormalities. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years.
Epidemiology and Demographics
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.
Pathophysiology
Genetics
Several genes have been implicated in the etiology of Walker-Warburg syndrome, and others are as yet unknown. Several mutations were found in the protein O-Mannosyltransferase 1 and 2 genes, and one mutation was found in each of the fukutin andfukutin-related protein genes.
Diagnosis
Symptoms
Developmental delay with mental retardation Seizures ocassionaly
Physical Examination
Neurologic
Generalized hypotonia at birth Muscle weakness
Laboratory Findings
Elevated creatine kinase Myopathic/dystrophic muscle pathology and altered α-dystroglycan.
Prenatal Ultrasound
May be helpful for diagnosis in families where the molecular defect is unknown.
Treatment
No specific treatment is available. Management is only supportive and preventive.
References
- Vajsar J, Schachter H (2006). "Walker-Warburg syndrome". Orphanet journal of rare diseases. 1: 29. doi:10.1186/1750-1172-1-29. PMID 16887026.free fulltext PDF