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• W2912331819 abstract "Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene. Patients with nephropathic cystinosis suffer not only from renal disease but have also other systemic complications like myopathy and swallowing dysfunction. Dysphagia for solid food is mentioned in patients with cystinosis, but in clinical practice swallowing investigations are only performed when the patient has complaints. The aim of this study was to explore the swallowing function in patients with cystinosis by use of the Test of Mastication and Swallowing Solids (TOMASS), and to compare their performance with patients with myotonic dystrophy type 1 – a neuromuscular disease in which dysphagia for solid food is a known problem.Twenty adult patients with cystinosis (11 men and 9 women, range 19–51 years) and 10 patients with myotonic dystrophy type 1 (5 men and 5 women, range 20–60 years) were included. All cystinosis patients were treated with cysteamine.Data of the two groups were compared with normative data using independent-samples t-tests. In case the variables were not normally distributed, the non-parametric Mann-Whitney U test was used.There was a significant difference in the number of bites, masticatory cycles, swallows and total time between the normal values and cystinosis patients. The results of the cystinosis patients were comparable to those of the patients with myotonic dystrophy.Adult patients with cystinosis have significant dysphagia for solid food. Clinicians treating these patients should be aware of this fact. The TOMASS can be performed easily in clinical practice to investigate whether patients with cystinosis have swallowing dysfunction. The swallowing dysfunction can now be diagnosed by use of a non-invasive, very simple, non-harmful test. It can be discussed whether this should be added to the regular care scheme of cystinosis patients in order to regularly follow-up swallowing function." @default.
• W2912331819 created "2019-02-21" @default.
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• W2912331819 date "2019-02-01" @default.
• W2912331819 modified "2023-10-06" @default.
• W2912331819 title "Prospective multi-center national study to standardize the follow-up of type 1 Gaucher disease patients treated with eliglustat under standard of care practice: TRAZELGA project" @default.
• W2912331819 doi "https://doi.org/10.1016/j.ymgme.2018.12.033" @default.
• W2912331819 hasPublicationYear "2019" @default.
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