Publications by authors named "Amit Upreti"
Ann Med Surg (Lond)
April 2024
Article Synopsis
- Ataxia telangiectasia (A-T) is a rare neurodegenerative disorder that affects children and is caused by mutations in the ATM gene, leading to symptoms like ataxia, telangiectasia, and increased cancer risk.
- A case study of a 19-year-old girl illustrates the severe symptoms of A-T, including spastic movements and slurred speech, supporting the diagnosis through specific lab and imaging findings.
- Management of A-T includes genetic counseling and supportive care, emphasizing the need for careful monitoring due to the disorder's association with infection risks and potential cancers.
