Genetic Factors Associated with Toe Walking in Children

Pomarino, David; Трен, А.; Мориго, С.; Трен, Дж. Р.; Емелина, А. А.

doi:10.15690/vsp.v19i2.2108

Cited by 4 publications

(9 citation statements)

References 31 publications

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“…This clinical phenotype has been associated with changes in the PMP22, EGR2, and AIFM1 genes. 13 By contrast, patients defined as having ITW type II display early onset of TW and hypertrophy of the calf muscle and have at least one other family member who displays similar symptoms. Approximately 52% of children who toe walk have type II ITW, spend approximately 70% of the time walking on their forefoot, and have been linked to changes in multiple genes.…”

Section: Geneticsmentioning

confidence: 99%

“…Approximately 52% of children who toe walk have type II ITW, spend approximately 70% of the time walking on their forefoot, and have been linked to changes in multiple genes. 13 Many of the genes identified as being linked to ITW have also been reported to being associated with both autosomal dominant mutations in CMT1 and CMT2 genes (genes initially associated with Charcot-Marie-Tooth neuropathy), in addition to autosomal recessive variants CMT4, CMT2, CMTRI, and CMTX. 14 Because children with ITW may have a genetic component, understanding the genetic determinants may help clarify the natural history and guide clinical decision making.…”

Section: Geneticsmentioning

confidence: 99%

“…Using whole genome sequencing, Pomarino et al 13 identified two groups of toe walkers based on clinical findings and gene modifications. Patients defined as having ITW type I have a late onset of the gait abnormality of TW, normal reflexes until the age of 14 years, hypertrophy of the calf muscle, pes cavus, and delayed language development.…”

Section: Geneticsmentioning

confidence: 99%

See 2 more Smart Citations

Idiopathic Toe Walking: An Update on Natural History, Diagnosis, and Treatment

Bauer

Sienko

Davids

2022

J Am Acad Orthop Surg

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Toe walking is a common presenting report to an orthopaedic practice. Evaluation of a child with toe walking includes a thorough history and physical examination to elucidate the diagnosis. When no other diagnosis is suspected, a diagnosis of idiopathic toe walking is often given. Despite the high prevalence of the condition, there is notable controversy of the nomenclature of the disease. Recent research has shed more light on both the natural history and the genetic basis. The use of motion analysis, including EMG and multisegment foot model, may help both differentiate children with mild forms of cerebral palsy and evaluate outcomes after treatment. Early treatment for young children with adequate range of motion (ROM) is generally reassurance because most young children with idiopathic toe walking are expected to resolve spontaneously. When the toe walking persists, treatment options include both surgical and nonsurgical management. Nonsurgical management centers on obtaining ROM through stretching and serial casting, followed by gait retraining and bracing treatment. Surgical lengthening at either the Achilles or gastrocnemius level improves the ROM of the ankle and then similarly requires therapy and bracing treatment to obtain a more normalized gait.

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Section: Geneticsmentioning

confidence: 99%

Section: Geneticsmentioning

confidence: 99%

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Idiopathic Toe Walking: An Update on Natural History, Diagnosis, and Treatment

Bauer

Sienko

Davids

2022

J Am Acad Orthop Surg

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“…В случае если не было выявлено никаких клинических причин ходьбы на носках (неврологических, ортопедических), ставится диагноз идиопатической ходьбы на носках (ИХН) [2]. С другой стороны, существуют основания полагать, что возникновение патологической походки связано с генетическими аномалиями [3]. В частности, у ребенка могут присутствовать патогенные нуклеотидные варианты генов PMP22, SH3TC2, PRX и других, ассоциированные с развитием невропатий, например болезнью Шарко-Мари-Тута, но вследствие неполной пенетрантности клиническая картина может быть не развернутой, а представленной лишь ходьбой на носках [4].…”

Section: обоснованиеunclassified

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

Pomarino

Трен

et al. 2021

Vopr. sovr. pediatr.

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Background. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein–Taybi and Menke–Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein–Taybi syndrome, but there were several signs of Menke–Hennekam syndrome.Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.

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“…This terminology is misleading, as recent publications suggest that previously undiscovered genetic mutations lead to the symptoms of toe walking when there is no apparent alternative clinical cause. 2 For the first time, this article at hand describes the case of a mutation in the KCNC3 gene in relation to toe walking. The full clinical report and the results of the genetic test are described in the subsequent paragraphs.…”

Section: Introductionmentioning

confidence: 99%

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

Pomarino¹,

Thren

Thren³

et al. 2021

Glob Med Genet

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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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Genetic Factors Associated with Toe Walking in Children

Cited by 4 publications

References 31 publications

Idiopathic Toe Walking: An Update on Natural History, Diagnosis, and Treatment

Idiopathic Toe Walking: An Update on Natural History, Diagnosis, and Treatment

Mutation in the CREBBP Gene in the Girl with Toe Walking Syndrome: Clinical Case

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

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