Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study
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.
Authors
- Jan Oliver Schönfeldt
- Kevin M. Rostasy (ORCID: https://orcid.org/0000-0002-2180-5321)
- Bastian Fregien
- P. David
- Alexander Nazarkin
Institutions
- Witten/Herdecke University (DE)
- Repha (Germany) (DE)
- Praxis (EE)
Publication Details
- Journal
- Global Medical Genetics
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1016/j.gmg.2025.100082
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00