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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).

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Title: 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).
Authors: Dumas, Rémy (AUTHOR), Jannot, Anne‐Sophie (AUTHOR), Elarouci, Nabila (AUTHOR), Salort‐Campana, Emmanuelle (AUTHOR), Pisella, Lucie (AUTHOR), Tard, Céline (AUTHOR), Sacconi, Sabrina (AUTHOR), Bouhour, Françoise (AUTHOR), Sarrazin, Elisabeth (AUTHOR), Spinazzi, Marco (AUTHOR), Laforet, Pascal (AUTHOR), Pereon, Yann (AUTHOR), Nadaj‐Pakleza, Aleksandra (AUTHOR), Echaniz‐Laguna, Andoni (AUTHOR), Choumert, Ariane (AUTHOR), Magy, Laurent (AUTHOR), Feasson, Léonard (AUTHOR), Esselin, Florence (AUTHOR), Cances, Claude (AUTHOR), Espile, Caroline (AUTHOR)
Source: European Journal of Neurology. Sep2025, Vol. 32 Issue 9, p1-10. 10p.
Subjects: Neuromuscular diseases, Socioeconomic factors, Sociodemographic factors
Geographic Terms: France
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 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. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: 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).
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  Data: <searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Socioeconomic+factors%22">Socioeconomic factors</searchLink><br /><searchLink fieldCode="DE" term="%22Sociodemographic+factors%22">Sociodemographic factors</searchLink>
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  Data: <searchLink fieldCode="DE" term="%22France%22">France</searchLink>
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  Data: 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. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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