The disclosure of a diagnosis of neuromuscular disease in adulthood: a qualitative study of patients' memories.

There is a scarcity of studies on the disclosure of diagnosis in adult patients with neuromuscular diseases. The act of disclosing a diagnosis is a pivotal event, particularly when it pertains to genetic, rare, chronic, and progressive illnesses. The objective of this study is to explore the memories and perceptions associated with receiving a diagnosis of a neuromuscular disease in a retrospective study. We conducted semi-structured interviews with n = 30 patients who had received a neuromuscular disease diagnosis at least 1 year and up to 37 years prior to participation in the study. Audio recordings of these interviews were made and transcribed. We carried out a textual analysis with IRaMuTeQ software to identify the main themes of the corpus. Four classes were identified: (1) the confirmation of the diagnostic results, (2) diagnostic delay, (3) psychological representations of neuromuscular disease and their disclosure, and finally (4) the genetic dimension, which also appears as a key theme. The results of this exploration of memories related to the disclosure of a neuromuscular disease diagnosis could help improve the conditions under which such diagnoses are communicated. The method used could also be adapted for the disclosure of other chronic, progressive diseases with a genetic component.