Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Abstract

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.

Keywords

SCA 13 / spinocerebellar ataxia 13 / toe walking / idiopathic toe walking / habitual toe walking / genetic testing toe walking / pes cavus

Ethical Approval and Consent to Participate

Ethical approval was obtained by the Research Team, and the patients' parents gave informed consent to participate in consultations relating to the data collected for this article.

Availability of Data and Material

The data cited in this article is available from the patients' files and can be reviewed for professional review purposes pending the consent of the patients' parents as their legal guardians.

Authors' Contributions

D.P. is the owner of the practice for toe walking, a specialist for the gait anomaly, and the head of the research team for the genetic causes of toe walking. Data from his examination of the patient was included in this article. J.R.T. works for D.P. as a research assistant and combined the data with background research to produce this case study. A.T. is an expert for the orthopaedic causes of toe walking and has examined this patient for the case study. K.R. is a neurologist with experience in treating and examining patients with SCA13; and examined the patient to verify that his initial symptom was toe walking and that other known indications of the condition were not as pronounced. J.S. works as a neuropediatrician and examined the patient for this case study.

Funding

None.

Conflict of Interest

D.P. is the owner of a practice specializing in the treatment of gait anomalies and has developed a treatment method for toe walking. Rest authors declare no conflict of interest.

Acknowledgments

The authors wish to thank the patient and his family for kindly agreeing to the publication of this case study.

References

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Global Medical Genetics