Objective: To assess the utilisation of genetic testing in the dystonia clinic using the Zech score.

Background: The diagnosis and categorisation of dystonia are primarily clinical. The Zech score is a validated scoring algorithm that predicts the diagnostic yield of genetic testing based on clinical characteristics.

Method: We conducted a prospective audit of all patients attending the Dystonia Clinic between September and December 2025. Data collected included clinical characteristics and diagnostic investigations performed to date. The Zech score was applied to each case to evaluate the predicted yield of genetic testing.

Results: Complete data were available for 148 of 192 patients identified. Of these, 43 (29%) were men. The median age was 66 years (range 22–93 years). Most attendees (120, 81%) had idiopathic dystonia, 5 (3.4%) had a confirmed genetic diagnosis, and 23 (15.5%) had other conditions. Among 106 patients who had not undergone genetic testing, 104 (98.1%) had Zech scores of 0–2, 2 (1.9%) had scores of 3–4, and none had a score of 5. Among 19 patients who had undergone genetic testing, 11 (57.9%) had Zech scores of 0–2, 6 (31.6%) had scores of 3–4, and 2 (10.5%) had a score of 5. Genetic testing was negative in 10 patients and results were unavailable for 4 patients. Among those with negative genetic testing (n=10), 7 (70%) had Zech scores of 0–2 and 3 (30%) had scores of 3–4. All 5 patients with confirmed genetic diagnoses had a Zech score ≥3. Genetic diagnoses included variants in CACNA1A, KMT2B, GNAL, and SLC2A1, as well as a case of Klinefelter syndrome with dystonia.

Conclusion: In this cohort, most patients who had not undergone genetic testing had low Zech scores, suggesting appropriate patient selection. All patients with confirmed genetic diagnoses had Zech scores ≥3, supporting the predictive value of this scoring system in clinical practice.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/audit-of-diagnostic-standards-in-the-dystonia-clinic/