Factors contributing to delays in the diagnosis of motor neuron disease: a South Australian study

Objective(s) To characterize the clinical factors that influence time to diagnosis of motor neuron disease (MND) in a cohort of patients living in South Australia. Design A retrospective study. Setting Single centre study of patients managed at a tertiary referral hospital. Participants Patients with MND living in South Australia enrolled in the Australian MND Registry between January 2016 and January 2018. One participant was excluded as study variables of interest were missing. Results The mean time to diagnosis was 13 ± 1 months (median 11 months; range 1–38 months) from symptom onset. 41% of patients were classified as having fast disease progression; mean age of disease onset of those with fast disease progression was significantly later in life compared to those with slow disease progression (68 ± 10 years vs 64 ± 8 years) (P < .05, t = −3.921, df = 220). Patients with fast disease progression were diagnosed significantly earlier than those with slow disease progression (8 ± 1 months vs 16 ± 2 months) (P < .0001, t = 34.6, df = 220), were less likely to undergo multiple specialist opinions prior to referral to a neurologist (53% vs 73%) (P < .05, Chi-squared = 9.5, df = 1), and were significantly more disabled at time of diagnosis (mean ALSFRS-R 33 ± 5) than those with slow disease progression (mean ALSFRS-R 41 ± 5) (P < .0001, t = 12.4, df = 220). Conclusion(s) Fast disease progression identifies a dichotomy of MND patients that are diagnosed earlier, probable because they are more disabled at diagnosis, likely mediated by a more efficient referral process. A greater awareness of the disease and increased accessibility to neurologists is required to shorten time to diagnosis.