OBJECTIVES: Charcot-Marie-Tooth (CMT) disease, also referred to as hereditary motor and sensory neuropathy, encompasses a group of inherited neurological disorders characterized by the progressive deterioration of the peripheral nervous system. This study aimed to identify the factors influencing the disease burden associated with CMT.

METHODS: We conducted a systematic literature search in the Embase^® and MEDLINE^® databases to identify articles published in English from database inception to the present reporting CMT disease data on costs and resource utilization.

RESULTS: Among the 286 records screened, eight publications providing data across various geographies were included: Germany (1), England (1), EU and USA (5), and the UK (1). More than half of these studies reported data on the utilization of medical and non-medical resources associated with CMT disease, highlighting significant contributors to its direct cost burden. In Germany, the reported yearly total cost of illness was (US$) 22,362. In the EU and USA, rehabilitative interventions and medication utilization rates ranged from 15.3% to 86.5% and 4.7% to 72.5%, respectively. Orthotics/walking aids were utilized by 0.8% (EU and USA) to 62.5% (England) of patients. Healthcare professional visits ranged from 36% (the UK) to 76% (Germany), with physiotherapists being the most frequently consulted, followed by neurologists. Furthermore, CMT was associated with considerable indirect costs, such as EU and USA reported high rates of disability-related unemployment (62%) and absenteeism from work (32%). On average, patients missed 21 (the USA) to 75 (France) workdays per year due to the disease. A majority of patients in Spain (96%), the UK (78%), Germany (76%) and the USA (70%) reported their work life was affected by CMT.

CONCLUSIONS: These findings underscore the comprehensive impact of CMT on healthcare resource utilization and productivity losses, highlighting the multifaceted challenges witnessed by individuals affected by this progressive neurological condition.