congenital cataract, progressive spasticity, intellectual or developmental disability, weak core, nonverbal or limited speech, small head, small eyes, optic atrophy, and hypogenitalism [3]
Usual onset
cataracts appear at birth, delayed milestones evident by 4-6 months [3]
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 [6]
Diagnosisedit
Warburg Micro syndrome is diagnosed by genetic testing. It should be suspected when cataracts are present at birth and developmental delays are noted.[3]
Treatmentedit
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.
Referencesedit
^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
^Handley, Mark T.; Carpanini, Sarah M.; Mali, Girish R.; Sidjanin, Duska J.; Aligianis, Irene A.; Jackson, Ian J.; Fitzpatrick, David R. (2015). "Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation". Open Biology. 5 (6): 150047. doi:10.1098/rsob.150047. PMC4632505. PMID 26063829.
January 01, 1970
warburg, micro, syndrome, warbm, complex, hereditary, spastic, paraplegia, rab18, deficiency, rare, autosomal, recessive, genetic, disorder, characterized, congenital, cataract, hypotonia, spastic, diplegia, intellectual, developmental, disability, microcephal. 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 5 Warburg Micro syndromeOther namesA complex Hereditary Spastic Paraplegia 1 RAB 18 Deficiency 2 Symptomscongenital cataract progressive spasticity intellectual or developmental disability weak core nonverbal or limited speech small head small eyes optic atrophy and hypogenitalism 3 Usual onsetcataracts appear at birth delayed milestones evident by 4 6 months 3 Diagnostic methodsymptom based genetic testing 3 TreatmentSupportive care 3 Frequency144 cases reported in literature 4 Contents 1 Genetics 2 Diagnosis 3 Treatment 4 ReferencesGenetics editWarburg 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 6 Diagnosis editWarburg Micro syndrome is diagnosed by genetic testing It should be suspected when cataracts are present at birth and developmental delays are noted 3 Treatment editThere 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 edit 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 a b c d e Warburg Micro Syndrome Handley Mark T et al 2013 Mutation Spectrum inRAB3GAP1 RAB3GAP2 andRAB18and Genotype Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome Human Mutation 34 5 686 696 doi 10 1002 humu 22296 PMID 23420520 S2CID 2437070 WARBURG Micro Syndrome https www ncbi nlm nih gov 10 Mar 2008 lt https www ncbi nlm nih gov omim term 600118 gt Handley Mark T Carpanini Sarah M Mali Girish R Sidjanin Duska J Aligianis Irene A Jackson Ian J Fitzpatrick David R 2015 Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation Open Biology 5 6 150047 doi 10 1098 rsob 150047 PMC 4632505 PMID 26063829 Retrieved from https en wikipedia org w index php title Warburg Micro syndrome amp oldid 1192518219, wikipedia, wiki, book, books, library,
