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ORPHA:60030  Loeys-Dietz syndrome

:: 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.

 Loss of an ability
Not defined
Maintaining a standing position
Walking short distances
Walking long distances
Performing vigorous activities (climbing, running, jumping, swimming,...)
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Handling stress, responsabilities, emergencies and ensuring one's safety
Handling emotions and mood
Moving around outside the home
Maintaining family relationships
Dealing with strangers
Engaging in and maintaining intimate relationships
Engaging in sexual relationships
Cooking/preparing meals
Doing housework
Looking after/helping others
Seeking employment
Performing professional tasks
Handling money/managing one's own budget
Carrying out administrative procedures
Source: Expert
Last update: 03/08/2020

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