Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review

Abstract Carpal Tunnel Syndrome (CTS) is the most common entrapment neuropathy, frequently presenting with pain, numbness, and muscle weakness due to median nerve compression. However, diagnosing CTS becomes particularly challenging in patients with Congenital Thenar Hypoplasia (CTH), a rare congeni...

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Main Authors: Hamed Naghizadeh, Omid Salkhori, Shahram Akrami, Seyyed saeed Khabiri, Aidin Arabzadeh
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Journal of Orthopaedic Surgery and Research
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Online Access:https://doi.org/10.1186/s13018-025-05870-5
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author Hamed Naghizadeh
Omid Salkhori
Shahram Akrami
Seyyed saeed Khabiri
Aidin Arabzadeh
author_facet Hamed Naghizadeh
Omid Salkhori
Shahram Akrami
Seyyed saeed Khabiri
Aidin Arabzadeh
author_sort Hamed Naghizadeh
collection DOAJ
description Abstract Carpal Tunnel Syndrome (CTS) is the most common entrapment neuropathy, frequently presenting with pain, numbness, and muscle weakness due to median nerve compression. However, diagnosing CTS becomes particularly challenging in patients with Congenital Thenar Hypoplasia (CTH), a rare congenital anomaly characterized by underdeveloped thenar muscles. The overlapping symptoms of CTH and CTS, such as thumb weakness, impaired hand function, and thenar muscle atrophy, can obscure the identification of median nerve compression. This review highlights the diagnostic complexities arising from this overlap and evaluates existing clinical, imaging, and electrophysiological assessment methods. While traditional diagnostic tests, including Phalen’s and Tinel’s signs, exhibit limited sensitivity in CTH patients, advanced imaging modalities like ultrasonography (US), magnetic resonance imaging (MRI), and diffusion tensor imaging (DTI) provide valuable insights into structural abnormalities. Additionally, emerging technologies such as artificial intelligence (AI) enhance diagnostic precision by automating imaging analysis and identifying subtle nerve alterations. Combining clinical history, functional assessments, and advanced imaging, an interdisciplinary approach is critical to differentiate between CTH-related anomalies and CTS accurately. This comprehensive review underscores the need for tailored diagnostic protocols to improve early detection, personalised management, and outcomes for this unique patient population.
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spelling doaj-art-b037562aa0954c5b995f7905d26913ea2025-08-20T01:51:39ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2025-05-0120111210.1186/s13018-025-05870-5Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive reviewHamed Naghizadeh0Omid Salkhori1Shahram Akrami2Seyyed saeed Khabiri3Aidin Arabzadeh4Joint Reconstruction Research Center, Department of Orthopedics, Tehran University of Medical SciencesJoint Reconstruction Research Center, Department of Orthopedics, Tehran University of Medical SciencesDepartment of Physical Medicine and Rehabilitation, Tehran University of Medical SciencesJoint Reconstruction Research Center, Department of Orthopedics, Tehran University of Medical SciencesJoint Reconstruction Research Center, Department of Orthopedics, Tehran University of Medical SciencesAbstract Carpal Tunnel Syndrome (CTS) is the most common entrapment neuropathy, frequently presenting with pain, numbness, and muscle weakness due to median nerve compression. However, diagnosing CTS becomes particularly challenging in patients with Congenital Thenar Hypoplasia (CTH), a rare congenital anomaly characterized by underdeveloped thenar muscles. The overlapping symptoms of CTH and CTS, such as thumb weakness, impaired hand function, and thenar muscle atrophy, can obscure the identification of median nerve compression. This review highlights the diagnostic complexities arising from this overlap and evaluates existing clinical, imaging, and electrophysiological assessment methods. While traditional diagnostic tests, including Phalen’s and Tinel’s signs, exhibit limited sensitivity in CTH patients, advanced imaging modalities like ultrasonography (US), magnetic resonance imaging (MRI), and diffusion tensor imaging (DTI) provide valuable insights into structural abnormalities. Additionally, emerging technologies such as artificial intelligence (AI) enhance diagnostic precision by automating imaging analysis and identifying subtle nerve alterations. Combining clinical history, functional assessments, and advanced imaging, an interdisciplinary approach is critical to differentiate between CTH-related anomalies and CTS accurately. This comprehensive review underscores the need for tailored diagnostic protocols to improve early detection, personalised management, and outcomes for this unique patient population.https://doi.org/10.1186/s13018-025-05870-5Carpal tunnel syndromeCongenital Thenar hypoplasiaMedian nerve compressionDiffusion tensor imagingNerve conduction studiesUltrasonography
spellingShingle Hamed Naghizadeh
Omid Salkhori
Shahram Akrami
Seyyed saeed Khabiri
Aidin Arabzadeh
Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review
Journal of Orthopaedic Surgery and Research
Carpal tunnel syndrome
Congenital Thenar hypoplasia
Median nerve compression
Diffusion tensor imaging
Nerve conduction studies
Ultrasonography
title Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review
title_full Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review
title_fullStr Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review
title_full_unstemmed Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review
title_short Diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia: a comprehensive review
title_sort diagnostic challenges of carpal tunnel syndrome in patients with congenital thenar hypoplasia a comprehensive review
topic Carpal tunnel syndrome
Congenital Thenar hypoplasia
Median nerve compression
Diffusion tensor imaging
Nerve conduction studies
Ultrasonography
url https://doi.org/10.1186/s13018-025-05870-5
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