Is Idiopathic Toe Walking Really Idiopathic?

NewsBot · Nov 7, 2025

Impact of Gait Events Identification through Wearable Inertial
Sensors on Clinical Gait Analysis of Children with Idiopathic
Toe Walking
Citation: Brasiliano, P.; Mascia, G.; Di
Feo, P.; Di Stanislao, E.; Alvini, M.;
Vannozzi, G.; Camomilla, V.
Micromachines 2023, 14, 277.

Abstract: Idiopathic toe walking (ITW) is a gait deviation characterized by forefoot contact with the
ground and excessive ankle plantarflexion over the entire gait cycle observed in otherwise-typical
developing children. The clinical evaluation of ITW is usually performed using optoelectronic
systems analyzing the sagittal component of ankle kinematics and kinetics. However, in standardized
laboratory contexts, these children can adopt a typical walking pattern instead of a toe walk, thus
hindering the laboratory-based clinical evaluation. With these premises, measuring gait in a more
ecological environment may be crucial in this population. As a first step towards adopting wearable
clinical protocols embedding magneto-inertial sensors and pressure insoles, this study analyzed the
performance of three algorithms for gait events identification based on shank and/or foot sensors.
Foot strike and foot off were estimated from gait measurements taken from children with ITW
walking barefoot and while wearing a foot orthosis. Although no single algorithm stands out as
best from all perspectives, preferable algorithms were devised for event identification, temporal
parameters estimate and heel and forefoot rocker identification, depending on the barefoot/shoed
condition. Errors more often led to an erroneous characterization of the heel rocker, especially in
shoed condition. The ITW gait specificity may cause errors in the identification of the foot strike
which, in turn, influences the characterization of the heel rocker and, therefore, of the pathologic
ITW behavior.
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NewsBot · Dec 7, 2025

Persistent Toe Walking as a Prominent Feature in Pediatric PMP22- Related Neuropathies: A Retrospective Cohort Study
Pomarino David et al
Global Medical Genetics

Purpose
Persistent toe walking in children is often considered idiopathic; however, increasing evidence suggests that alterations in the PMP22 gene—implicated in Charcot–Marie–Tooth disease type 1 A (CMT1A) and Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)—may contribute to its pathogenesis. This study investigates the association between PMP22 variants (duplications, deletions, and point mutations) and toe walking in children, aiming to delineate their clinical and genetic characteristics.
Methods
A retrospective analysis was performed on 22 pediatric patients (mean age: 7.7 years) with persistent toe walking and confirmed PMP22 variants identified through a 49-gene next-generation sequencing (NGS) panel. In selected cases, Multiplex Ligation-dependent Probe Amplification (MLPA) was applied to confirm copy number variations. Comprehensive clinical evaluations included musculoskeletal, neurological, and developmental assessments.
Results
All identified variants demonstrated dominant inheritance. Pathogenic variants were present in 54.5% of patients, likely pathogenic in 31.8%, and variants of uncertain significance (VUS) in 13.6%. Among pathogenic cases, most carried PMP22 duplications, one had a deletion, and the remainder harbored the missense variant p.(Thr118Met). The three VUS carriers exhibited comparatively milder phenotypes, such as muscle cramps, lumbar hyperlordosis, mild dorsiflexion restriction, hyporeflexia, pes cavus, and clinodactyly/brachydactyly; only one presented with tremor. Lumbar hyperlordosis (90.9%) and pes cavus (90.9%) were the most consistent findings.
Conclusions
Persistent toe walking may represent an early sign of PMP22-related neuropathies rather than a benign idiopathic gait pattern. The predominance of PMP22 duplications and characteristic neuromuscular features highlight the clinical utility of integrating NGS and MLPA testing for accurate diagnosis, targeted management, and genetic counseling.
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NewsBot · Jan 29, 2026

IDIOPATIC TOE WALKING IN CHILDREN – GUIDED
SELF-REHABILITATION AS A NEW THERAPEUTIC
APPROACH, CASE STUDY
Nicole Musilova, Rudolf Ditmar
Fiz. rehabil. med. 2025; 39 (3): 99-447

Background
Toe walking is a suboptimal locomotion pattern in which children walk on the tiptoes
without the hindfoot touching the floor. The majority of causes remains idiopathic
(habitual) toe walking (ITW). Several causes of ITW have been suggested, such as
delayed development of the cortico-spinal tract, vestibular dysfunction, psychogenic
causes or congenital shortening of the Achilles tendon. In some children, functional
disruption or general deconditioning may develop. Treatment is usually based on
age, underlying cause, the development and severity of tendon contracture. There is
good evidence for casting and surgery in the treatment of idiopathic toe walking, but
also the intramuscular injection of botulotoxin into calf muscles in combination with
an exercise program can improve the walking pattern.
Case report
8 years old boy, who suffered from IWT, was sent to our department by an orthope-
dist for consultation. In case history, there was neurologically suspicion of Asperger´s
syndrome. ITW occurred when the patient was 2 years old. He underwent repeated
sessions of guided physiotherapy, including Vojta reflex locomotion and Bobath con-
cept, as well as orthotic management (splinting and shoe insoles), all with minimal
therapeutic effect. Patient was examined according to professor Gracies´ concept.
Range of motion (ROM) was restricted bilaterally. No signs of spasticity were observed.
The patient was unwilling to undergo injection treatment, so we chose kinesiothera-
py. He and his mother were briefed in self-rehabilitation based on a combination of
stretching the triceps surae muscle and strengthening the antagonistic muscle groups.
The follow-up examination after four weeks showed significant improvement in both
active and passive ROM, with complete elimination of toe walking.
Conclusion
Guided self-rehabilitation based on the concept of prof. Gracies, commonly used in
patients with focal spastic paresis, can be effectively used in therapy of IWT. Parenteral
and child compliance is crucial and it is a key factor in treatment effectiveness.
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NewsBot · Feb 19, 2026

Pediatric toe-walking cohort with heterozygous SBF1 variants: A phenotypic description
David Pomarino et al
Global Medical Genetics Volume 13, Issue 1, March 2026, 100095

Purpose
Persistent toe walking is frequently labeled idiopathic; however, targeted genetic testing in selected cohorts can identify variants in genes implicated in neuromuscular disease. SBF1 is a known cause of autosomal recessive Charcot–Marie–Tooth disease type 4B3 (CMT4B3), whereas the clinical relevance of heterozygous SBF1 variants—particularly variants of uncertain significance (VUS)—remains unclear. We aimed to describe, in an exploratory manner, the clinical features of children with persistent toe walking in whom heterozygous SBF1 variants were identified, and to contextualize these observations using published CMT4B3 families and Human Phenotype Ontology (HPO) feature frequencies.
Methods
We retrospectively analyzed children referred to a specialized toe-walking clinic who underwent a standardized blinded clinical assessment and targeted 49-gene next-generation sequencing. Individuals with alternative sequencing approaches or known non-genetic causes of toe walking were excluded. Heterozygous SBF1 variants were summarized using HGVS nomenclature, ACMG classification, population allele frequency, and report date. Phenotypic frequencies were compared with published SBF1-related CMT4B3 families and with HPO-reported feature frequencies for CMT4B3.
Results
The cohort comprised 86 children (mean age 9.5 years), all with persistent toe walking. Common findings included skeletal features (e.g., pes cavus and lumbar hyperlordosis), whereas muscle weakness and deep tendon reflex abnormalities were less frequent than reported in recessive CMT4B3 families. Genetic testing identified a spectrum of heterozygous SBF1 variants, predominantly classified as VUS.
Conclusions
In this referral-based cohort, heterozygous SBF1 variants were observed in children with persistent toe walking and accompanying mild neuromotor/musculoskeletal features that partially overlap with reported CMT4B3 phenotypes; however, these findings are descriptive and do not establish causality or enrichment. Longitudinal follow-up, segregation/phase determination, and electrophysiological studies are needed to clarify clinical significance, potential biallelic configurations in some individuals, and possible gene-dosage or modifier effects.
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NewsBot · Mar 6, 2026

Multiplanar kinematic deviations in idiopathic toe walking: A comparison with voluntary toe walking gait
Ching Hang Chiu et al
Gait & Posture Volume 127, June 2026, 110134

Highlights
•
ITW gait shows multiplanar deviations beyond ankle plantarflexion.
•
Voluntary toe walking fails to replicate ITW kinematic patterns.
•
Multi-segment foot modelling reveals ITW-specific forefoot and hindfoot deviations.
Abstract
Introduction
Idiopathic toe walking (ITW) refers to persistent toe walking beyond the age of three with no known neuromuscular causes. While ITW is primarily characterised by excessive ankle plantarflexion, multiplanar lower limb and segmental foot kinematic deviations remain underexplored. It is also unclear whether these deviations are merely biomechanical consequences of toe walking or specific to ITW.
Research Question
How does the gait pattern in children with ITW differ from typically developing children during normal walking (TD-N) and voluntary toe walking (TD-TW)?
Methods
This retrospective study included 44 children with ITW, and 44 typically developing children walking in a normal heel-toe pattern as well as voluntarily walking on toes. Three-dimensional lower-limb and multi-segment foot kinematics were collected, and joint kinematics was analysed using one-dimensional statistical parametric mapping adjusted for speed and age.
Results
Both toe-walking groups showed reduced step length and velocity, compared to TD-N, while only the TD-TW group walked with reduced step width relative to TD-N. ITW-specific deviations (compared to TD-TW) included excessive ankle plantarflexion at mid-swing, increased knee and hip flexion in swing and external hip rotation.
Significance
Voluntary toe walking does not fully replicate the gait pattern seen in ITW, suggesting the ITW gait pattern represents adaptations beyond biomechanical consequences of walking on toes.
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NewsBot · Mar 16, 2026

Clinical Features in Children with Persistent Toe Walking Who Carry Heterozygous PYGM Variants: A Cross-Sectional Study
David Pomarino et al
J Musculoskelet Neuronal Interact. 2026 Mar 1;26(1):115-123. doi: 10.22540/JMNI-26-115.

Objectives: Persistent toe walking (TW) in children is often idiopathic but may conceal subtle neuromuscular or metabolic causes. This cross-sectional, retrospective study investigated clinical and genetic characteristics of children carrying PYGM variants to explore potential subclinical phenotypes among heterozygous carriers.

Methods: Seventy-two (72) children meeting criteria for idiopathic TW were evaluated using a standardized clinical protocol and a validated 49-gene next-generation sequencing neuromuscular panel. Variants were classified as pathogenic, likely pathogenic, or of uncertain significance according to ACMG/AMP guidelines. Analyses were descriptive.

Results: Among 1,300 screened patients, 72 were identified as PYGM variant carriers. Toe walking was bilateral in all cases, with severe dorsiflexion restriction (≤ 5°) in 80.5%. Pes cavus was observed in 93% of patients, and muscle symptoms-pain, fatigue, or cramps-occurred in approximately one-third. VUS carriers displayed comparable, slightly milder muscle symptom frequencies than P/LP carriers. 12.5% could perform heel walking. Speech difficulties were reported in 56.9% of cases.

Conclusions: While causality cannot be inferred, these findings suggest that heterozygous PYGM variants may contribute to subtle neuromuscular phenotypes. Genetic testing can be considered in persistent TW when clinical findings raise suspicion for an underlying neuromuscular/metabolic condition.
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NewsBot · Apr 5, 2026

Multiplanar kinematic deviations in idiopathic toe walking: A comparison with voluntary toe walking gait
Ching Hang Chiu et al
Source

Highlights

•
ITW gait shows multiplanar deviations beyond ankle plantarflexion.
•
Voluntary toe walking fails to replicate ITW kinematic patterns.
•
Multi-segment foot modelling reveals ITW-specific forefoot and hindfoot deviations.

Abstract
Introduction
Idiopathic toe walking (ITW) refers to persistent toe walking beyond the age of three with no known neuromuscular causes. While ITW is primarily characterised by excessive ankle plantarflexion, multiplanar lower limb and segmental foot kinematic deviations remain underexplored. It is also unclear whether these deviations are merely biomechanical consequences of toe walking or specific to ITW.
Research Question
How does the gait pattern in children with ITW differ from typically developing children during normal walking (TD-N) and voluntary toe walking (TD-TW)?
Methods
This retrospective study included 44 children with ITW, and 44 typically developing children walking in a normal heel-toe pattern as well as voluntarily walking on toes. Three-dimensional lower-limb and multi-segment foot kinematics were collected, and joint kinematics was analysed using one-dimensional statistical parametric mapping adjusted for speed and age.
Results
Both toe-walking groups showed reduced step length and velocity, compared to TD-N, while only the TD-TW group walked with reduced step width relative to TD-N. ITW-specific deviations (compared to TD-TW) included excessive ankle plantarflexion at mid-swing, increased knee and hip flexion in swing and external hip rotation.
Significance
Voluntary toe walking does not fully replicate the gait pattern seen in ITW, suggesting the ITW gait pattern represents adaptations beyond biomechanical consequences of walking on toes.
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NewsBot · Apr 22, 2026

Idiopathic Toe Walking in Children
Source

Idiopathic toe walking (ITW) is a gait abnormality that is characterized by persistent toe ambulation without an identified neurological cause or orthopedic condition. Early intervention for the treatment of ITW is crucial to prevent long term complications such as Achilles tendon contractures, gait abnormalities, and balance concerns in children. This study explored optimal timing or orthotic and prosthetic (O&P) intervention for ITW. Participants included 26 children diagnosed with ITW between ages four to 10 years old and 13 healthcare professionals involved in ITW management, including orthotists, prosthetists, pediatricians, and physical therapists. Children were divided into two groups based on intervention timing: an early intervention group (ages 4-5) and a later intervention group (ages 6-10). All pediatric participants received a custom ankle-foot orthosis (AFO) as the primary intervention. Outcome measures included gait parameters recorded using the GAITRite Walkway System, caregiver and clinician responses collected through a modified Toe Walking Tool (TWT) questionnaire, and functional balance assessment using the Pediatric Balance Scale (PBS). Gait variables measured included step length, cadence, and heel strike frequency. The findings suggested earlier intervention before adaptations were identified, improved long term outcomes reducing the need for treatment along with surgical procedures. Additionally, the study emphasized the importance of implementing orthotic management with AFOs within different periods of ages to identify the best optimal timing for intervention with device management and education supporting intervention timing. These insights and findings contributed to making evidence-based decision-making choices to enhance treatment strategies to improve outcomes for children with ITW.
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NewsBot · Jun 14, 2026

Preliminary Validation of a Device to Measure Idiopathic Toe Walking
David A. Wilder et al
Behavior Analysis: Research and Practice 26(2) 114-123, May 2026. | DOI: 10.1037/bar0000331

Idiopathic toe walking refers to ambulating with a toe-to-toe gait in the absence of a clear cause. It is exhibited by a wide variety of children but is most common among young children with autism spectrum disorder and related disabilities. Long-term toe walking can cause a variety of medical problems, including shortening of the tendons, abnormal posture, and balance issues. Behavioral researchers have typically measured toe walking by walking behind the participant and video-recording their steps. The video is then viewed, and data on the number or percentage of steps on toes or the number of intervals with toe walking are scored. In this study, we describe the validation of a device that attaches to participants’ shoes and measures the angle of the heel on each step, which indicates whether the heel contacts the ground. Specifically, we compared toe walking measured in the traditional manner (i.e., via video record) with the same toe walking measured by the device for five children with autism. Data were very similar for each participant (mean agreement for all participants was 95% or above), indicating that the device accurately measured toe walking as it occurred. We discuss the implications of using technology to measure, assess, and treat behaviors targeted for reduction.
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NewsBot · Jun 17, 2026

Children With Idiopathic Toe Walking Display Different Cortical Activation Patterns When Interpreting Tactile Sensation
Jack H Donne et al
Dev Psychobiol. 2026 Jul;68(4):e70168.

Idiopathic toe walking (ITW) is a diagnosis given to children who walk with an absence of heel strike in the contact phase of the gait cycle, who are otherwise typically developing. This study aimed to determine if children with ITW had cortical activation differences when completing a tactile sensation test compared to typically developing children. The study included 15 typically developing children and 15 children with ITW. Participants were required to perform a two-point discrimination test during an fMRI using a standard block design.Four clusters were identified, where the controls exhibited significantly greater activation than the ITW group during the tactile test. The largest cluster peaked in the right inferior frontal gyrus. A second cluster was centered in the right middle frontal gyrus. The third cluster peaked in the right inferior parietal lobule. Lastly, a smaller cluster was identified in the right precuneus.The results indicate that the control group exhibited greater activation than the ITW group in key brain regions involved in executive function, motor planning, and sensory integration. These findings support the notion that ITW is linked to functional differences in neural networks related to motor control and sensory integration.
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NewsBot · Jul 2, 2026

Sensory Processing Characteristics and Regional Plantar Loading Patterns in Children With Idiopathic Toe Walking: A Cross-Sectional Comparative Study
Reyhaneh Radman fard et al
Journal of Bodywork and Movement Therapies

Background
Idiopathic toe walking (ITW) is characterized by persistent forefoot gait in the absence of identifiable neurological or orthopedic disorders. Although traditionally interpreted as a musculoskeletal condition, emerging evidence suggests that altered sensory processing may contribute to atypical gait mechanics.
Objective
To compare sensory processing patterns, plantar pressure characteristics, and distal lower extremity variables between children with ITW and typically developing peers, and to explore associations between sensory and biomechanical parameters.
Methods
Fifty children aged 7–12 years (25 ITW, 25 controls) participated. Sensory processing was assessed using the Short Sensory Profile 2, light touch threshold (Semmes–Weinstein monofilaments), vibration perception (128-Hz tuning fork), and ankle joint position sense using an inertial measurement unit (IMU). Dynamic plantar pressure data were collected across thirteen plantar regions. Group comparisons and correlation analyses were conducted (α = .05).
Results
Children with ITW demonstrated significantly altered sensory processing scores and increased proprioceptive angular error (p < .05). While global plantar force measures did not independently discriminate groups, regional analysis revealed significant forefoot loading differences (p < .05). Significant correlations were identified between proprioceptive error and regional plantar loading variables.
Conclusion
Findings support a multidimensional sensory-motor model of ITW. Integrating sensory assessment into clinical evaluation may enhance intervention strategies.
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NewsBot · Jul 10, 2026

Reliability and utility of a novel classification scheme for gait deviations in children with persistent idiopathic toe walking
Sancy Childers et al
Source

Highlights
•
Novel classification of persistent idiopathic toe walking.
•
Based upon sagittal plane ankle kinematics and kinetics.
•
Excellent reliability and utility in classifying gait deviations.
•
At baseline and following surgery to improve gait.
•
Can provide insight into natural history, refine clinical decision making, and improve outcome assessment.
Abstract
Background
Neurotypical children in whom toe walking does not resolve spontaneously by school age are considered to have Persistent Idiopathic Toe Walking (ITWp). The Alvarez classification, the only existing tool for classifying ITWp, is imprecise, and external validity has not been established. A comprehensive classification scheme based upon gait deviations in children with ITWp has been developed to facilitate clinical decision making and outcomes assessment.
Methods
A retrospective review was performed of subjects with ITWp, who were evaluated at a tertiary referral center by a standardized protocol including quantitative gait analysis. Sixty-five neurotypical children with ITWp were studied. Pre- and post-operative data were available for 26 of the 65 subjects (52 limbs). Cases were classified using the Alvarez classification and a novel Shriners Children’s classification (SC-ITWp). Intra- and inter-observer reliability were determined for the SC-ITWp, as was utility (percentage classifiable) for both Alvarez and SC-ITWp (130 limbs, prior to intervention; 52 limbs following surgery to improve gait).
Results
The SC-ITWp exhibited excellent reliability, with intra-rater agreement of 96.7% (weighted kappa = 0.98); and inter-rater agreement of 86.7% (weighted kappa = 0.93). The Alvarez classification exhibited poor utility, failing to classify 59 of 130 limbs (45%) prior to intervention, and 23 of 52 limbs (44%) following surgery. The SC-ITWp exhibited excellent utility, successfully classifying each limb discretely into one category.
Conclusions/Significance
The SC-ITWp exhibited excellent reliability and utility in classifying the limbs of children with ITWp prior to interventions and following surgery to improve gait.
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NewsBot · Jul 22, 2026

Sensory Processing Differences in Children With Idiopathic Toe Walking: A Scoping Review and Exploratory Meta-Analysis
Virginia Way Tong Chu et al
Source

Importance
The cause of idiopathic toe walking (ITW) remains unclear, though impaired sensory processing has often been hypothesized to be linked to ITW.
Objectives
The objective of this article is to review the literature on toe-walking to identify how sensory processing contributes to ITW.
Data Sources
Four databases (CINAHL, Pubmed, PsychINFO, and SCOPUS) were searched for papers related to sensory processing and ITW published prior to July 2024. References of retrieved papers were reviewed for additional sources.
Study Selection and Data Collection
The PRISMA guidelines for scoping review were used to abstract the data following Joanna Briggs Institute methodology. Inclusion criteria were examined and papers included at least one sensory system related to ITW was studied. Papers were excluded if toe walking was due to diagnosed neurological, orthopedic, or genetic conditions.
Findings
Our scoping review identified 13 published articles relevant to examining sensory processing in children with ITW. Studies explored differences in vibration perception, light touch, proprioception, vestibular, visual processing, sensorimotor functional assessments, and parental surveys of sensory processing. Six of the papers were included in a meta-analysis on vibration perception threshold that failed to reach significance (p = .12). Despite heterogeneity across studies in participants, methods, and outcomes, a meta-analysis for atypical scores from parent-report sensory processing survey data yielded significant differences between children with ITW and typical controls (p < .0068).
Conclusions and Relevance
Children with ITW demonstrate impairments across multiple domains of sensory processing and sensory-motor function suggesting an underlying relationship between ITW and sensory differences. Children with ITW, however, represent a diverse group of individuals with significant between-subjects variability in which senses are impaired, and which outcome measures best capture these differences.
Plain Language Summary
This review was undertaken to examine the role sensory processing differences play in idiopathic toe walking (ITW). ITW is defined as consistent walking on toes (without heel strike) that is not due to other medical conditions. The results of this review showed that atypical responses to sensory stimuli are frequently reported in children with ITW. These differences were observed across multiple domains of sensory processing. However, the differences in sensory processing in children with ITW varied greatly among individuals in terms of which senses showed impaired processing. Furthermore, children with ITW often have reduced range of motion in their ankles, reduced strength, and difficulty with balance. Sensory-based interventions show potential for modifying walking patterns in children with ITW.
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NewsBot · Aug 3, 2026 at 10:09 PM

Validity and Reliability of the Turkish Version of the Idiopathic Toe Walking Outcome (iTWO) Proforma
Esra Giray et al
J Foot Ankle Re. 2026 Jul 28;19(3):e70188. doi: 10.1002/jfa2.70188

Introduction

This study aims to evaluate the validity and reliability of the Turkish version of the Idiopathic Toe Walking Outcome proforma (iTWO proforma‐T), a clinician‐ and parent‐reported tool designed to assess symptoms, functional performance, and treatment outcomes in children with idiopathic toe walking (ITW).
Methods

Thirty‐five children aged 4–14 years with ITW were included. The translation procedure followed the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) guidelines. Construct validity was examined through correlations between individual iTWO proforma‐T items and the Toe Walking Severity Scale, the Oxford Ankle Foot Questionnaire (OxAFQ), and the Pediatric Outcomes Data Collection Instrument (PODCI). Test–retest reliability was assessed in 10 of the 35 participants using intraclass correlation coefficients (ICC).
Results

Most items demonstrated excellent test–retest reliability (ICC > 0.90), including parent‐reported toe‐walking percentage, satisfaction, treatment adherence, pain‐on‐activity, and clinician‐reported gait scale. Validity analyses showed significant and meaningful correlations between iTWO proforma‐T items and established measures. The estimated toe‐walking percentage correlated strongly with the Toe Walking Severity Scale (ρ = −0.549) and the OxAFQ emotional domain (ρ = −0.493). Functional performance items (gait scale, 2‐ and 6‐minute walk tests) showed moderate positive correlations with toe‐walking severity, whereas pain‐related items correlated negatively with relevant PODCI and OxAFQ domains.
Conclusion

The iTWO proforma‐T is a valid and reliable instrument for evaluating symptoms, functional status, and treatment‐related outcomes in children with idiopathic toe walking. The tool preserves the structure and measurement characteristics of the original proforma and can be confidently used by clinicians and researchers for evidence‐based assessment and follow‐up in Turkish‐speaking pediatric populations.
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NewsBot · Aug 5, 2026 at 7:59 PM

Toe Walking: a Regional Analysis of TTN Variants Between c.10,000 and c.99,999 in a Cohort of Children
David Pomarino et al
Global Medical Genetics 1 August 2026, 100123

Background
Persistent toe walking is traditionally considered idiopathic when no neurological or orthopedic cause is identified. Emerging evidence suggests genetic contributors, including TTN, but genotype–phenotype relationships remain poorly understood in affected children.
Methods
This retrospective descriptive study evaluated children with persistent toe walking assessed between November 2022 and April 2026 at a specialized physiotherapy practice. All participants underwent standardized clinical assessment and targeted next-generation sequencing. Individuals carrying TTN variants within the c.10,000–99,999 region were stratified into nine predefined cDNA intervals. Demographic characteristics, gait features, musculoskeletal findings, neurological signs, and variant distributions were summarized descriptively.
Results
The cohort comprised 581 individuals carrying 509 TTN variants. Most variants were classified as variants of uncertain significance, while likely pathogenic variants were uncommon. Male predominance was observed across all intervals. Mean age at assessment, age at independent walking, age at toe-walking onset, and toe-walking frequency were highly consistent between groups. Reduced ankle dorsiflexion was the most frequent examination finding, affecting 88.2–97.4% of participants. Muscle pain, cramps, fatigue, spinal abnormalities, heel-walking impairment, pes cavus, tremor, and other associated features demonstrated modest variation across intervals without a consistent regional pattern. Several recurrent TTN variants were identified, most notably c.32624 C>T, c.48727 C>T, and c.73825 G>C.
Conclusions
Children carrying TTN variants within the c.10,000–99,999 region exhibited broadly similar clinical phenotypes characterized by persistent toe walking and reduced ankle dorsiflexion. Stratification by cDNA location did not reveal clear genotype–phenotype clustering, suggesting limited predictive value of variant position alone and supporting the need for functional and segregation-based studies in future research.
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Is Idiopathic Toe Walking Really Idiopathic?

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Is Idiopathic Toe Walking Really Idiopathic?

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Unraveling the mysteries of idiopathic toe walking (Melbourne)

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The Prevalence and Course of Idiopathic Toe-Walking in 5-Year-Old Children

Online survey on idiopathic toe walking and Quality of Life

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Idiopathic toewalking in children

Idiopathic toe walking and sensory processing dysfunction

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