GS-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

• Conditions: Muscular contracted pointed toe/toe walking gait

• Registration Number: DRKS00028878
• Lead Sponsor: Pomarino. Praxis für Ganganomalien

Brief Summary

Eighty-nine patients werde 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2023-02-06
• Study Completion: 2023-03-24
• Results First Posted: 2023-04-21
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 89

Inclusion Criteria

Toe walking at least 50% of the time, participation in a NGS-test of 49 genes, written consent

Exclusion Criteria

Underlying acquired or congenital pathologies (e.g. cerebral palsy, tethered cord syndromes), complications before, during or immediately after birth, in the case of changes in the monosynaptic reflexes, a pronounced muscle weakness of the triceps surae muscle or asymmetry as an indication of an underlying neurological disease and subsequent positive diagnosis in the specialist field of neurology or neuropaediatrics, as well as in the case of severe orthopaedic malformations.

Study & Design

• Study Type: observational
• Study Design: Not specified