• A study compared the self-assessment health questionnaire completed by 131 women and 150 men from the French National Observatory of Facioscapulohumeral Myopathy (FSHD), with the physician’s clinical assessment report including the same items.
• The analysis was carried out on 39 items separated into seven categories: diagnosis, demography, muscle function, etc.
• The comparison of the evaluation of objective criteria (demographic items, diagnosis, etc.) and quantifiable items (modified Brookes and Vignos scales) shows excellent agreement between patient and physician data.
• The assessment of symptoms such as inability to whistle, facial motor skills or scapular detachment shows significant disagreement, with the patient generally minimising these manifestations.
• Non-specific symptoms of FSHD, such as dizziness or chest pain, are more frequently reported by the patient.
• No effect of patients’ age, education level or disease severity was observed on these patterns.
These results have made it possible to rework the data collection forms of the FSHD registry by favouring the collection from patients for items shown to be concordant, and by relying on the clinical assessment of physicians for items identified as discordant.
