Pomarino David, Thren Johanna Ronja, Thren Anneke, Rostasy Kevin, Schoenfeldt Jan
PTZ Pomarino, Hamburg, Germany.
Department of Anthropology, Durham University, Durham, United Kingdom.
Glob Med Genet. 2021 Oct 19;9(1):51-53. doi: 10.1055/s-0041-1736483. eCollection 2022 Mar.
This article at hand described a 4-year-old child patient who initially presented with the symptoms of toe walking. As part of the diagnostic process, the patient was genetically tested to find the cause of the gait anomaly. The genetic test found a mutation in the KCNC3 gene. The variant c.1268G > A; p.Arg423. His was found in a heterozygotic state. This variant is frequently described as a cause for spinocerebellar ataxia type 13 (SCA13) in the literature. Apart from toe walking as the most pronounced symptom, the patient displayed an instable gait with frequent falls and delayed speech development. The genetic test to determine the cause of the gait anomaly successfully diagnosed the patient with a previously undiscovered SCA13 and subsequently enabled the recommendation of personalized further treatment.
本文描述了一名4岁儿童患者，最初表现为脚尖行走症状。作为诊断过程的一部分，对该患者进行了基因检测以找出步态异常的原因。基因检测发现KCNC3基因存在突变。变异为c.1268G > A；p.Arg423。发现其处于杂合状态。该变异在文献中常被描述为13型脊髓小脑共济失调（SCA13）的病因。除了脚尖行走作为最明显的症状外，该患者还表现出步态不稳、频繁跌倒以及语言发育迟缓。确定步态异常原因的基因检测成功诊断出该患者患有此前未发现的SCA13，随后得以推荐个性化的进一步治疗方案。
