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

Autor:	David Pomarino, Johanna Ronja Thren, Anneke Thren, Kevin Rostasy, Jan Schoenfeldt
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	sca 13 spinocerebellar ataxia 13 toe walking idiopathic toe walking habitual toe walking genetic testing toe walking pes cavus Genetics QH426-470 Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Zdroj:	Global Medical Genetics, Vol 09, Iss 01, Pp 051-053 (2022)
Druh dokumentu:	article
ISSN:	2699-9404 0041-1736
DOI:	10.1055/s-0041-1736483
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/c35d92bb72334b17b118cb98165d27be Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF