Journal Article

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)

Attarian, Shahram, Warde, Marie‐Thérèse Abi, Laforet, Pascal, Noury, Jean‐Baptiste, Boyer, François‐Constant, Pereon, Yann, Desguerre, Isabelle, Vuillerot, Carole, Jacquin‐Piques, Agnès, Adams, David, Bouhour, Françoise, Brochard, Sylvain, Spinazzi, Marco, Paquis, Véronique, Espile, Caroline, Chabrol, Brigitte, Rouzier, Cécile, Cintas, Pascal, Sarrazin, Elisabeth, Isapof, Arnaud, Elarouci, Nabila, Salort‐Campana, Emmanuelle, Lefeuvre, Claire, Ropars, Juliette, Feasson, Léonard, Marelli, Cécilia, Nadaj‐Pakleza, Aleksandra, Esselin, Florence, Flabeau, Olivier, Michaud, Maud, Antoine, Jean Christophe, Sarret, Catherine, Mallaret, Martial, Taithe, Frédéric, Tich, Sylvie Nguyen The, Magy, Laurent, Pisella, Lucie, Cassereau, Julien, Dieterich, Klaus, Stojkovic, Tanya, Chaussenot, Anabelle, Gonzales, Emmanuel, Jannot, Anne‐Sophie, Laugel, Vincent, Solé, Guilhem, Bach, Nathalie, Bonnefont, Jean‐Paul, Cances, Claude, Lacombe, Didier, Choumert, Ariane, Durigneux, Julien, Tard, Céline, Fradin, Mélanie, Bellance, Rémi, Bonneau, Dominique, Louvier, Ulrike Walther, Délmont, Emilien, Dumas, Rémy, Sacconi, Sabrina, E

2025

Overview

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 confirmed diagnosis. Comparison with 25,682 managed in the same centers and during the same periods with a confirmed diagnosis revealed that socioeconomic characteristics and region of residence did not influence diagnostic status. However, lack of a confirmed diagnosis was more common in patients aged > 50 years, and older patients had longer periods between first symptom onset and first interaction with an expert center. Evaluation of medical records identified eight RNMDs associated with increased risk of diagnostic wandering and impasse. Conclusions The FILNEMUS national network of expert centers has enabled equality of care for RNMD patients across France, but further measures are needed to promote more rapid referral to these centers, reduce times to first consultation, and maintain patient engagement in the diagnostic process, particularly for later‐onset RNMDs. Between 2017 and 2022, 13.5% of the 42,256 FILNEMUS patients (n = 5696) still lacked a confirmed diagnosis. Socio‐economic status and postcode are off the hook, but crossing the 50‐year mark sharply lengthens the gap between first symptoms and expert evaluation. Eight neuromuscular diseases top the “whodunnit” list, highlighting the need for nimbler diagnostic pathways especially for the silver‐haired sleuths among us.

• Publisher: John Wiley & Sons, Inc
• Subject: Adolescent / Adult / Aged / Child / Child, Preschool / Databases, Factual / Diagnosis / diagnostic impasse / diagnostic wandering / epidemiology / Female / France - epidemiology / Humans / Infant / Life Sciences / Male / Medical records / Middle Aged / Neuromuscular diseases / Neuromuscular Diseases - diagnosis / Neuromuscular Diseases - epidemiology / neuromuscular disorder / Patients / rare disease / Rare diseases / Rare Diseases - diagnosis / Rare Diseases - epidemiology / Socioeconomics / Young Adult