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Warburg Micro syndrome

Field	Value
name	Warburg Micro syndrome
synonyms	A complex Hereditary Spastic Paraplegia, RAB 18 Deficiency
symptoms	congenital cataract, progressive spasticity, intellectual or developmental disability, weak core, nonverbal or limited speech, small head, small eyes, optic atrophy, and hypogenitalism
onset	cataracts appear at birth, delayed milestones evident by 4-6 months
diagnosis	symptom based, genetic testing
treatment	Supportive care
frequency	144 cases reported in literature

Warburg Micro syndrome (WARBM), a complex hereditary spastic paraplegia or RAB18 deficiency, is a rare autosomal recessive genetic disorder characterized by congenital cataract, hypotonia, spastic diplegia, intellectual or developmental disability, microcephaly, microcornea, optic atrophy, and hypogenitalism.

Presentation

Genetics

Warburg Micro is autosomal recessive, which means two copies of an abnormal gene must be present for the disorder to appear. Warburg Micro is caused by mutations in any of the following genes: RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20

Diagnosis

Warburg Micro syndrome is diagnosed by genetic testing. It should be suspected when cataracts are present at birth and developmental delays are noted.

Treatment

There is no specific treatment for Warburg Micro syndrome, but there are ways to help the symptoms that come with it. Congenital cataracts should be operated in the first two months. Physical and occupational therapy should begin as soon as possible. Medication can treat seizures, spasticity, and digestive issues. Orthotics like braces and assistive devices like standers and wheel chairs can improve bone health, spasticity, and mobility. Specialists can perform surgeries to address hip and spine health.

References

Hereditary spastic paraplegia. PP Liberski, C Blackstone - Neurodegeneration, 2017
Handley M, Sheridan E. RAB18 Deficiency. In: GeneReviews®. University of Washington, Seattle, Seattle (WA); 1993. PMID 29300443
"Warburg Micro Syndrome".
Handley, Mark T.. (2013). "Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome". Human Mutation.
"WARBURG Micro Syndrome." https://www.ncbi.nlm.nih.gov/ 10 Mar. 2008 https://www.ncbi.nlm.nih.gov/omim/?term=600118.
Handley, Mark T.. (2015). "Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation". Open Biology.

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders syndromes-with-craniofacial-abnormalities rare-syndromes

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