Amyotrophic lateral sclerosis – time from symptom onset to diagnosis in relation to clinical presentation and the diagnostic pathway

Abstract

Introduction: Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that leads to damage to the upper and lower motor neurons, progressive motor disability, and respiratory failure. Despite the introduction of the Gold Coast criteria, diagnostic delay remains substantial, limiting the possibility of early implementation of symptomatic therapies and targeted treatment. Objective: The aim of the study was to characterise the clinical profile of patients with newly diagnosed amyotrophic lateral sclerosis and to identify factors that may influence the time to diagnosis, with particular emphasis on the onset phenotype, age at disease onset, sex, and cognitive and behavioural impairment. Materials and methods: An analysis was performed on 48 consecutive patients diagnosed at a tertiary referral centre who met the Gold Coast or El Escorial criteria. The following variables were assessed: age at symptom onset, time from symptom onset to diagnosis, and onset phenotype (spinal, bulbar, UMN-predominant, LMN-predominant, and respiratory). Results: Spinal onset (45.8%) and bulbar onset (41.7%) were the most frequently observed phenotypes. Patients with bulbar onset were significantly older than those with spinal onset. The mean time from symptom onset to diagnosis was 19.4 months and did not differ between phenotypes. Cognitive impairment or features of a frontal syndrome were identified in 20.8% of patients. Conclusions: The diagnostic delay in the analysed cohort was longer than that reported in many European registries and was not dependent on the onset phenotype. Differences in age and clinical presentation confirm the heterogeneity of amyotrophic lateral sclerosis. The substantial proportion of patients with cognitive impairment underscores the need for a comprehensive assessment at the time of diagnosis.