Health‐Related Quality of Life in Adult Charcot–Marie–Tooth Disease: An Online Patient Registry Study in Japan

Introduction The quality of life (QoL) in patients with Charcot–Marie–Tooth disease (CMT) in Japan remains unclear. This study, therefore, aimed to assess the health‐related QoL (HRQoL) of Japanese adult patients with CMT based on data from the online Japanese CMT Patient Registry. Methods We analyzed the results of online questionnaires, which were completed between February 2021 and May 2025, including the Short‐Form 36 (SF‐36) and questionnaires developed based on the Overall Neuropathy Limitation Scale (ONLS), obtained from Japanese CMT patients aged 20 or older. Result Responses from 155 CMT patients (63 females, median age of 56 years) were analyzed. The average scores for all SF‐36 subscales of CMT patients were lower than those of the general population based on Japan's nationwide survey. Among CMT patients, the arm and leg grade scores of ONLS were negatively correlated with multiple subscales of SF‐36, especially the Physical Function subscale. Age at response, onset age, disease duration, and sex did not significantly influence HRQoL in CMT patients. The arm grade score in ONLS was independently correlated with the Body Pain subscale. Discussion Upper and lower limb dysfunction significantly impaired the HRQoL of the patients with CMT in Japan, affecting not only the physical subscales of SF‐36, but also the social and the Body Pain subscales. Interventions to maintain hand and leg function and to relieve pain may help promote HRQoL in patients with CMT.