The present work attempts to define reproducibility, test-retest and internal consistencies of two standardised tools that measure health related quality of life (HRQoL), specifically as they apply to hereditary neuromuscular disease (HNMD): the Nottingham health profile (NHP) and the medical outcome study 36-item short-form questionnaire (MOS SF-36). A cross sectional survey of 108 hereditary neuromuscular disease patients completed the questionnaires consecutively in the course of multidisciplinary consultations in Reims between April 2002 and February 2005. The results of the study confirm the acceptability of using generic questionnaires such as the Nottingham health profile and the SF-36, and show good reliability for these instruments. For both instruments, reproducibility (test-retest) appears excellent for the physical dimensions explored, and satisfactory for the mental dimensions. There is nonetheless a need for health related quality of life measures validated for neuromuscular disease patients. Health related quality-of-life (HRQoL) measures provide information on how patients assess their health and the care provision they are offered.