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Background: Lysosomal Storage Diseases (LSD) are rare and multisytemic diseases which are caused by lysosomal enzyme deficiencies leading into accumulation of waste products due to an interruption in the decomposition process. Due to the low prevalence and therefore limited disease awareness as well as the fact that LSD patients present with unspecific symptoms the final diagnosis is often made after a long delay. The aim of this German-wide survey was to characterize the period between onset of symptoms and final diagnosis regarding e.g. self-perceived health, symptom burden and false diagnoses for patients with selected LSDs (Fabry disease (FD), Gaucher disease (GD) and Mucopolysaccharidosis type II (MPS II)., Methods: The study was conducted as a telephone based cross-sectional survey. All patients living in Germany with a confirmed diagnosis of FD, GD or MPS II were eligible to participate. The questionnaire was provided in advance in order to enable the participants to prepare for the interview. Only descriptive analyses were carried out. Single analyses were not carried out for all three patient groups due low case numbers., Results: Of the overall population, 39 patients have been diagnosed with FD, 19 with GD and 11 with MPS II with the majority of patients being index patients. The majority of FD patients reported their current health status as "satisfactory" or better (79.5%). Self-perceived health status was observed to be at least stable or improving for the majority of FD patients compared to the year prior to diagnosis. The most frequently reported symptoms for patients with FD were paraesthesias (51.3%), whereas patients with GD reported a tendency for bleeding, blue spots or coagulation disorder (63.2%) as well as hepatomegaly and/or splenomegaly (63.2%) as the most commonly appearing symptoms. The number of patients reporting misdiagnoses was n = 5 (13.5%) for patients with FD and n = 5 (27.8%) for patients with GD. The median duration of the diagnostic delay was 21.0 years for FD, 20.0 years for GD and 2.0 years for MPS II., Conclusions: This study showed that self-perceived status of health for patients might improve once the final correct diagnoses has been made and specific treatment was available. Furthermore, it was observed that diagnostic delay is still high in Germany for a relevant proportion of affected patients. Further challenges in the future will still be to increase awareness for these diseases across the entire healthcare sector to minimize the diagnostic delay., Competing Interests: Eugen Mengel received consulting fees and speakers honoraria from Sanofi Genzyme, Alexion, Orphazyme and Prevail. Eugen Mengel also received honoraria from Shire Deutschland GmbH to contribute his clinical expertise to this study. Jens Gaedeke has received honoraria from Amicus Therapeutics, Novartis, Sanofi, Roche. Jens Gaedeke also received honoraria from Shire Deutschland GmbH to contribute his clinical expertise to this study. Jörg Reinke received honoraria from BioMarin Pharmaceutical Inc., Genzyme, and Actelion. Jörg Reinke also received honoraria from Shire Deutschland GmbH to contribute his clinical expertise to this study. Holger Gothe is employed by IGES Institut GmbH; Simon Krupka and Christoph Ohlmeier were employed by IGES Institut GmbH at the time the study was performed. IGES Institut GmbH received funding from Shire Deutschland GmbH for the execution of the study and manuscript preparation. Anja Lachmann is employed by Shire Deutschland GmbH. These commercial affiliations do not alter the authors’ adherence to PLOS ONE policies on sharing data and materials.

Background: The English version of the de Morton Mobility Index (DEMMI) enables allied health professions in an inpatient setting to assess the mobility of geriatric patients in a reliable, valid, easy and fast way, without showing any floor or ceiling effects. The aim of this study was the DEMMI's cross-cultural adaption into German language with further analysis of some of its psychometric properties based on this process., Material and Methods: Translation was done in a multistage procedure following international recommendations. Within clinical pilot testing the DEMMI was routinely applied over a period of 3 weeks in a geriatric hospital. User experiences were evaluated in a qualitative way and DEMMI test results were analyzed with the focus on practicability and responsiveness., Results: A German DEMMI version has been translated and performed with 133 patients. The test takes approximately 10 min to administer, is save and easy to use and does not show any floor or ceiling effects. The DEMMI is valid for the whole mobility spectrum, that is why mobility changes can be realized sufficiently in contrast to the Timed Up And Go Test., Conclusion: The DEMMI is already applicable in the German-speaking world. However, further research on its validity and reproducibility are desirable.