Clinical, Neurological, and Differential Diagnostic Characteristics of Dorsopathy Developing Against the Background of Undifferentiated Connective Tissue Dysplasia and their Statistical Analysis

Abstract

Background: Undifferentiated connective tissue dysplasia (UCTD) may modify the clinical course of vertebrogenic dorsopathy, but its clinical, neuroimaging, and biochemical profile in young adults remains insufficiently characterised. Aims: This study evaluated the clinical, neuroimaging, and biochemical features of spinal dorsopathy associated with UCTD and assessed their diagnostic and prognostic value. Study Design: A prospective, comparative, observational clinical and biochemical study. Place and Duration of Study: The outpatient department of the “Medion” Private Medical Clinic, Tashkent, Uzbekistan, between January 2024 and May 2026. Methodology: We examined 150 young adults aged 18–35 years. The sample comprised 60 patients with dorsopathy and comorbid UCTD (Group 1), 60 patients with isolated dorsopathy (Group 2), and 30 healthy controls. Clinical evaluation used the Visual Analogue Scale (VAS) for pain, the Oswestry Disability Index (ODI) for functional impairment, and the Wayne Questionnaire for autonomic status. Structural spinal changes were assessed using magnetic resonance imaging (MRI). Biomarker screening measured serum matrix metalloproteinases (MMP-2 and MMP-9), native elastin degradation fragments, ionised magnesium, and 25-hydroxyvitamin D [25(OH)D]. Results: Patients in the UCTD group developed dorsopathy earlier, with a lower mean age at presentation (23.6 ± 0.65 vs. 30.3 ± 0.47 years) and an earlier onset of pain (10.4 ± 0.35 vs. 19.25 ± 0.36 years), frequently accompanied by an asthenic phenotype. This group reported more severe pain (7.8 ± 0.1 vs. 4.6 ± 0.17 points), greater functional disability (39.1 ± 0.9% vs. 17.2 ± 0.3%), and more marked autonomic dysfunction (21.9 ± 0.78 points; all P < 0.001). MRI showed a higher prevalence of lumbar disc herniation in the UCTD group (52.0% vs. 20.0%; r_pb = 0.33; P < 0.001). The UCTD group also had higher MMP-9 (190.95 ± 5.6 ng/mL) and elastin-fragment concentrations (86.4 ± 3.5 ng/mL), together with lower ionised magnesium (1.75 ± 0.02 mg/dL) and 25(OH)D (19.68 ± 0.9 ng/mL). Receiver operating characteristic analysis showed high diagnostic performance for MMP-9 (AUC = 0.924) and elastin fragments (AUC = 0.911) in identifying the dysplastic phenotype. Conclusion: Spinal dorsopathy associated with UCTD showed an earlier onset, more frequent multisegmental disc herniation, and greater extracellular-matrix degradation than isolated dorsopathy. The combined assessment of clinical scales, MRI findings, and biochemical markers may help characterise this phenotype and inform further evaluation of targeted management strategies.