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

Pomarino, David; Thren, Johanna Ronja; Thren, Anneke; Rostásy, Kevin; Schoenfeldt, Jan

doi:10.1055/s-0041-1736483

Cited by 4 publications

(3 citation statements)

References 7 publications

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“…Patients with R448H and R423H mutations have similar clinical manifestations, such as movement disorders, mental retardation, and seizures, while R420H exhibits clinical phenotypes similar to those of other SCAs types, with slow progression of symptoms, obvious trunk and limb ataxia, gait instability and dysarthria [14]. In addition, patients with SCA13 may have sleep disturbances, involuntary shaking, and toe walkingl gait [15]. In this case, the patient had normal intellectual development since childhood.…”

Section: Discussionmentioning

confidence: 74%

Epilepsy as the Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Shao

Shang

et al. 2023

Preprint

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Background:The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous Group of neurodegenerative diseases, among which SCAl3 is a rare subtype, and its pathogenic gene is the KCNC3 gene. At present, the incidence of SCA13 is still unclear, and only two cases have been reported in the Chinese population. We report a case of SCA13 with ataxia and epilepsy as the clinical manifestations. The diagnosis was confirmed by full-exome testing. Case presentation:A 17-year-old young patient was unable to carry out many sports activities since childhood, and had repeated episodes of unconsciousness in the past 2 years. Neurologic examination revealed poor coordination of the lower extremities. Magnetic resonance imaging (MRI) of the brain performed cerebellar atrophy. Gene detection indicated that the patient had a heterozygous mutation of c.1268G>A in the KCNC3 gene (chr19:50826942). Urgent treatment with antiepileptic therapy was initiated; her seizures resolved shortly thereafter, and she remains seizure-free.The patient's condition had no obvious progress and aggravation with 1 year follow-up. Couclusion:This case report suggests that ataxia patients with unknown causes, especially children and young onset patients, it is necessary to actively improve cranial MRI and genetic detection to make a clear diagnosis.Young patients with ataxia initially characterized by epilepsy and extrapyramidal system should first consider the possibility of SCA13.

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Section: Discussionmentioning

confidence: 74%

Epilepsy as the Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Shao

Shang

et al. 2023

Preprint

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“…By using the NGS-panel, prior to this study, we were able to identify an undetected spinocerebellar ataxia 13 in a boy and a Menke-Hennekam syndrome in a girl. 30 31 Following both diagnoses, the gait anomaly could be treated alongside a recommendation for treatment of the conditions and a clearer prognosis for the children's future development. In this way, the further genetic testing could be used for the generation of knowledge and as a novel method to detect progressive genetic conditions, with the potential for more research to generate further insights.…”

Section: Discussionmentioning

confidence: 99%

NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly

et al. 2023

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Idiopathic toe walking (ITW) describes a condition affecting approximately 4.5% of children. Toe walking is an accompanying symptom for many hereditary disorders. This retrospective study uses next-generation sequencing-panel-diagnosis to investigate the feasibility of genetic testing to research the possible genetic causes of ITW and for differential diagnosis.Data were taken from our inhouse database, the minimum age for participants was 3 years. Underlying neurological or orthopaedic conditions were tested for and ruled out prior to diagnosing ITW. Patients, who experienced complications before, during or immediately after birth, children with autism, and patients toe walking less than 50% of the time were excluded.Eighty-nine patients were included in the study, in which 66 (74.2%) patients were boys and 23 (25.8%) girls. Mean age at testing was 7.7 years (range: 3–17 years). Fifteen of the 89 patients included in the study (16.9%) had a genetic variant identified as likely pathogenic or pathogenic by the genetics laboratory. Additionally, we found 129 variants of uncertain significance. About 65.2% of patients showed a pes cavus foot deformity, 27% of patients reportedly had at least one relative who also displayed the gait anomaly, and 37.1% had problems with their speech development.Despite the limitations of the sample size and the scope of our genetic testing targets, our results indicate that research into the genetic causes of ITW could better our understanding of the causes of ITW in otherwise healthy children, to help develop novel methods to detect serious conditions early. ITW could be an early onset symptom for further hereditary conditions.

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“…2 ITW affects males more than girls and about 4.5% of the population and it also occurs in normally developing adolescents who are otherwise healthy. 3 The Clinical Practice Guideline in Development group of Academy of Pediatric Physical Therapy (APTA), focusing on ITW, recommends a differential diagnosis process to optimize early intervention and outcomes. PT interventions and medical interventions differ based on the etiology of TW.…”

Section: Introductionmentioning

confidence: 99%

Conservative therapy and physiotherapy in children with toe walking: a systematic review

Besios,

Kyriakatis,

Besios

2024

Int J Clin Trials

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The purpose of this systematic review was to study all the randomized controlled trials on the effects of conservative treatment and physiotherapy programs on children with toe walking. A literature search was performed in the databases: PubMed, Scopus, PsychInfo, SportDiscus, and ResearchGate. Toe-walking and toe walking were the keywords searched. Furthermore, explicit inclusion and exclusion criteria were established, and the research selection procedure was carried out by two distinct reviewers. The physiotherapy evidence data-base (PEDro) scale was used to assess the quality of the final studies included in the systematic review. Out of the total of 2079 studies initially identified, 6 studies were finally included. The results showed that physiotherapy interventions and conservative therapy, such as botulinum toxin, ankle foot orthosis or foot orthosis and electric stimulation therapy can help reduce toe walking especially when these methods are combined with classic physiotherapeutic exercises and stretches. Conservative treatment and physiotherapy have positive effect on children who have toe walking symptoms. However, further research is needed in this area to determine the most effective treatment methods to reduce the symptoms of toe walking and find the best treatment to improve the daily lives of these patients, focusing on avoiding surgical procedures.

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

Cited by 4 publications

References 7 publications

Epilepsy as the Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

Epilepsy as the Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene

NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly

Conservative therapy and physiotherapy in children with toe walking: a systematic review

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