Diagnostic Impasse and Wandering in Patients With Rare Neuromuscular Diseases: Insights Into Patient Characteristics From the French National Network for Rare Neuromuscular Diseases (FILNEMUS) and the French National Rare Disease Database (BNDMR).

ABSTRACT:

Background

Diagnostic wandering and impasse are major challenges for rare disease management. This study describes the characteristics of patients with rare neuromuscular diseases (RNMDs) without a diagnosis being managed by the French national network for RNMDs (FILNEMUS).

Methods

Data for RNMD patients managed by FILNEMUS centers between January 2017 and November 2022 were extracted from the French National Rare Disease Database (BNDMR). A network-wide, standardized, and quality-controlled process was established to collect additional data for patients without a diagnosis. The demographic and socioeconomic characteristics of these patients were then compared with patients with a confirmed diagnosis.

Results

13.5% of patients evaluated (n = 5696/42,256) had no confir

SUBMITTER: Dumas R 

PROVIDER: S-EPMC12409643 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature