Background Assessing Health Related Quality of Life (HRQoL) with validated instruments is essential when evaluating the burden of Huntington’s disease (HD). Generic HRQoL tools, such as EuroQol-5 dimensions questionnaire and the Short Form (36) Health Survey (EQ-5D and SF-36), allow comparison between diseases, but may be insensitive. Disease-specific instruments, such as the Huntington Quality of Life instrument (H-QoL-I) specifically designed for patients suffering with HD, are thought to be more sensitive, but only allow comparisons within the same disease.

Aim The aim of the study was to assess HD patients’ HRQoL in France, and to compare the results provided by EQ-5D, SF-36 and H-QoL-I.

Methods The design was an observational, cross-sectional study to investigate the burden of disease (BoD) and HRQoL of HD patients. HD patients were recruited through the national French association “Huntington France”. The EQ-5D, SF-36 and H-QoL-I were voluntarily self-administered.

Results 175 patients were recruited. The mean age was 56.5 (± 11) years; 49.4% were female. Results from the H-QoL-I showed that motor and psychological dimensions (scores: 37.12 and 37.02 respectively) were the most affected dimensions; whereas the social dimension was less affected (score 53.82). For the EQ-5D, self-care and usual activities were the most altered dimensions and pain was the least altered dimension. For the SF-36, role-emotional limitations and role-physical limitations were the most altered dimensions and bodily pain was the least altered dimension (scores: 27.08, 30.52, and 69.12 respectively).

Conclusion French HD patients’ HRQoL was highly affected by their disease. Consistent results were found between the three instruments: motor and psychological dimensions were the most affected whereas the pain dimension was least affected. Better therapeutic options to improve HD motor function, and hence, HRQoL are needed.