ArticleJournal of musculoskeletal & neuronal interactions2026
Clinical Features in Children with Persistent Toe Walking Who Carry Heterozygous PYGM Variants: A Cross-Sectional Study.
Article in Journal of musculoskeletal & neuronal interactions, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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Who cites it
3 citing papers in PubMed.
- Selective percutaneous myofasciotomy in persistent toe-walking: Anatomical rationale and surgical technique.Surgery open science · 2026Article
- Toe walking: A regional analysis of TTN variants between c.10,000 and c.99,999 in a cohort of children.Global medical genetics · 2026Article
- Clinical and regional distribution of TTN variants in toe walking: A descriptive cohort study.Global medical genetics · 2026Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesPersistent 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.
methodsSeventy-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.
resultsAmong 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.
conclusionsWhile 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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