Abstract
Background/Objectives Due to the complexity of neuromuscular diseases (NMD), patients can face significant delays in accessing appropriate diagnostic services. For patients, this means prolonged engagement with alternative non-neuromuscular clinics, delayed diagnosis and subsequently treatment initiation. For health services this increases cost and strain on an already overburdened healthcare system.
This study aimed to quantify the delay that NMD patients experience in accessing appropriate diagnostic services and identify potential improvements.
Methods We retrospectively reviewed the case information of patients referred to the Royal Adelaide Hospital neuromuscular/neurogenetics clinic from 2016 – 2021. Data collection involved review of triage data, clinical letters and investigations in the electronic medical records.
Results 77 individual patients were referred to the neuromuscular clinic. 22 were referred with a confirmed diagnosis for specialist management, 55 for diagnostic uncertainty - at referral; 31 unknown diagnosis, 9 possible diagnosis, 15 probable diagnosis.
Average 11.74 years from symptom onset to clinic review. Average 1.8 specialists involved prior to neuromuscular clinic. Average 229 days wait from triage to clinic review.
Of those referred for diagnostic uncertainty, 49% (27/55) received a confirmed diagnosis where the average time from first clinic to diagnosis was 133 days.
Conclusion/Discussion Our audit has shown delays in the diagnostic assessment of NMD including poor recognition of symptomatology, misdiagnosis or inappropriate referrals to other specialists. Improved availability of specialist neuromuscular services has the potential to decrease time to clinic reviews, provide more support to primary care doctors and identify appropriate referrals, thereby lessening the burden on other specialities.
