A case of paroxysmal dystonia with rhabdomyolysis caused by a TANGO2 gene mutation
LI Huan-huan
REN Shu-hong
DING Chang-hong
Abstract：Collect clinical data of one female patient aged 5 with TANGO2 gene mutation leading to episodic dystonia accompanied by rhabdomyolysis,who was admitted to the Department of Neurology,Baoding Hospital of Beijing Children's Hospital Affiliated to Capital Medical University on December 30,2023.The main symptoms of the patient were rhabdomyolysis after infection,elevated creatine kinase,and hyperammonemia.By analyzing the patient's medical history,physical examination,laboratory tests,and combining the genetic test results,the diagnosis was confirmed as TANGO2 deficiency disorder(TDD).The relevant domestic and international literature was reviewed,summarize the clinical features,diagnosis,and treatment experience of this disease were summarized,and further summarize the clinical characteristics,diagnosis,and treatment of TANGO2 deficiency disorder were further summarized.
Keywords：TANGO2paroxysmal dystoniarhabdomyolysis
Publication Date：2025-07-06
Online Publishing Date：2025-09-04(First online date of this platform, not the publication date of the document)
Pages：5( 608-612 )