Spectrum of Hereditary Ataxia in Omani Children

Background/Objectives: Hereditary ataxias are a genetically and phenotypically heterogeneous group of neurodegenerative disorders that often pose diagnostic challenges. This study characterized the spectrum of hereditary ataxias encountered at our institution and identified phenotypic patterns that may facilitate early recognition and diagnosis. Methods: A retrospective cohort study included patients younger than 18 years presenting with ataxia at Sultan Qaboos University Hospital between January 2012 and January 2022. Medical records were reviewed for demographic, clinical, molecular genetics, and neuroimaging data. Ataxia was classified as acquired or hereditary. Hereditary cases were identified based on clinical features and family history and further divided into genetically confirmed and non-genetically confirmed. Selected clinical variables were evaluated for their impact on the diagnostic yield of hereditary ataxia. Data analysis was performed using SPSS version 29, with a significance level set at p < 0.05. Results: A total of 132 patients were identified with ataxia, and 70 met the diagnostic criteria for hereditary ataxia. Among the 70 patients, 46 (65.7%) had autosomal recessive ataxia, 9 (12.9%) had apparently sporadic ataxia for whom autosomal recessive inheritance could not be excluded, and 4 (5.7%) had autosomal dominant ataxia. Ataxia telangiectasia was the most frequent inherited ataxia in our cohort, 12/70 (17%), followed by Charlevoix-Saguenay spastic ataxia, 5/70 (7.1%). There were no significant differences in clinical characteristics or neuroimaging findings between the two groups, including peripheral neuropathy. Conclusions: Ataxia telangiectasia represents the most common form of hereditary ataxia in our cohort. Peripheral neuropathy was more frequently observed in genetically confirmed patients, but this difference was not statistically significant. Early recognition and molecular diagnosis of potentially treatable neurometabolic and movement disorders remain important for timely management and prognosis.