OBJECTIVES: Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders. The disease manifests with varying degrees of severity and can significantly impact the quality of life (QoL) of affected individuals. We aimed to systematically examine the extent to which CMT affects QoL, utilizing widely recognized QoL measurement tools.

METHODS: A systematic literature search was conducted in the Embase^® and MEDLINE^® databases to identify articles published in English from database inception to present, reporting data on health-related quality of life (HRQoL) of patients with CMT disease.

RESULTS: The systematic review identified a total of 465 studies, from which 30 met the inclusion criteria for our qualitative analysis. The majority of studies were conducted in European countries (n=8), followed by the USA (n=8), global studies (n=8), Australia (n=3), Brazil (n=2), and Serbia (n=1). The EQ-5D-5L and SF-36 were the most frequently administered QoL scales. In patients with CMT disease, the primary symptoms contributing to QoL deterioration were bodily pain (84%), difficulty in mobility (67%), fatigue (52%), and foot drop (64%). Additionally, 50% of patients described their pain as shooting, stabbing, burning, or severe, with the main pain sites being the feet, legs, knees, and lower back. A study based in the USA found significant correlations between the SF-36 physical functioning domain and pain intensity on the Visual Analogue Scale (VAS) (p < 0.01), as well as between limitations due to physical health and the VAS scale (p < 0.004). A study conducted in France reported mean (standard deviation) scores for physical and mental SF-36 domains of 36.4 (10.0) and 48.4 (11.5), respectively. Age and disease severity were identified as the primary factors exacerbating the QoL in CMT patients.

CONCLUSIONS: Pain is a predominant and critical symptom in CMT disease. Effective treatments can significantly enhance patients’ QoL.