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ORPHA:2116 Hartnup disease

Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health – Children and Youth (ICF-CY, WHO 2007). The provided information is assessed from the whole patients’ population affected by the disease, receiving standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support). Functional consequences are organized by their frequency in the patients’ population. This general information may not apply to specific cases. Some difficulties reported here can occur with a different temporality or severity degree, and others that are not listed can nevertheless arise.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability

Cognitive abilities
Permanent limitation
Permanent limitation
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Environmental factors

Following are the environmental factors that should be addressed in order to improve the functioning or limit the restrictions deriving from this disease.

Light intensity
Source: Pr Udo WENDEL[Expert]
Last update: 26/11/2015


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