Pomarino, David and Thren, Johanna Ronja and Thren, Anneke and Rostasy, Kevin and Schoenfeldt, Jan (2022) 'Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene.', Global Medical Genetics, 9 (1). pp. 51-53.
This article at hand described a 4-year-old 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.Arg423His 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.
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|Publisher Web site:||https://doi.org/10.1055/s-0041-1736483|
|Publisher statement:||This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)|
|Date accepted:||31 August 2021|
|Date deposited:||14 January 2022|
|Date of first online publication:||19 October 2021|
|Date first made open access:||14 January 2022|
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