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ORPHA:1775  Dyskeratosis congenita

:: 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
Frequent
Temporality
Severity
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Low
Practicing sports
Permanent limitation
Unspecified
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Hearing/listening
Permanent limitation
Unspecified
Receiving spoken messages
Permanent limitation
Unspecified
Receiving written messages
Permanent limitation
Unspecified
Speaking
Permanent limitation
Unspecified
Writing messages
Permanent limitation
Unspecified
Participating in a conversation
Permanent limitation
Unspecified
Using transportation
Permanent limitation
Low
Driving
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Moderate
Shopping
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Unspecified
Source: Dr Thierry LEBLANC[Expert]_Dr Sharon SAVAGE[Expert]
Last update: 09/06/2016

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