Patient journey with Charcot-Marie-Tooth Disease – A German patient survey study

Abstract Background Charcot-Marie-Tooth (CMT) and related disorders represent one of the largest groups of inherited neurological disorders. Long considered incurable, the first disease-modifying treatments are currently being evaluated in clinical trials. However, frequent misdiagnosis or delayed recognition are common, hindering timely treatment necessary to prevent permanent disability. In this study, we conducted a survey among patients from our CMT clinic and the German patient advocate group to capture patients’ perspective on the diagnostic journey and to explore solutions for earlier diagnosis and improved access to specialized care. Results 270 CMT patients participated in the survey. The average time between symptom onset and first physician contact was 5.2 years with a symptom to diagnosis time of 13.7 years. Patients who were first seen by an orthopedic specialist had a longer diagnostic delay compared to those seen by a neurologist or geneticist. Diagnostic hospitalizations occurred in 46% of cases. More than half of the patients were initially misdiagnosed, which prolonged the diagnostic journey and impaired the patients’ general health. Conclusions Our study highlights that patients with CMT in Germany regularly face a prolonged diagnostic odyssey before receiving a correct diagnosis. Lengthy diagnostic pathways involving frequent doctor visits and hospital stays, as well as misdiagnosis, lead to inappropriate treatment, and high emotional and economic burden. Late diagnosis may limit the effectiveness of upcoming therapies that rely on early treatment initiation. New strategies need to be defined to decrease the costs for both patients and healthcare systems and prepare for upcoming therapies.