Warburg Micro syndrome
| Warburg Micro syndrome | |
|---|---|
| Other names | A complex Hereditary Spastic Paraplegia, Supportive care[3] |
| Frequency | 144 cases reported in literature [4] |
Warburg Micro syndrome (WARBM), a Complex Hereditary Spastic Paraplegia or RAB18 Deficiency, is a rare
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 [6]
Diagnosis
Warburg Micro syndrome is diagnosed by genetic testing. It should be suspected when cataracts are present at birth and developmental delays are noted.[3]
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
- ^ a b c d e "Warburg Micro Syndrome".
- S2CID 2437070.
- ^ "WARBURG Micro Syndrome." https://www.ncbi.nlm.nih.gov/ 10 Mar. 2008 <https://www.ncbi.nlm.nih.gov/omim/?term=600118>.
- PMID 26063829.