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ORPHA:2485  Melorheostosis

:: 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
Learning to write
Permanent limitation
Moderate
Writing
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Using communication devices
Permanent limitation
Moderate
Standing
Permanent limitation
Unspecified
Bending
Permanent limitation
Unspecified
Maintaining a standing position
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Falling asleep
Permanent limitation
Low
Staying asleep
Permanent limitation
Low
Handling emotions and mood
Transient limitation
Unspecified
Moving around within the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Using transportation
Permanent limitation
Low
Driving
Permanent limitation
Severe
Shopping
Permanent limitation
Low
Cooking/preparing meals
Permanent limitation
Low
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Low
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Accessing higher education
Permanent limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Low
Playing with others
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Sitting
Permanent limitation
Unspecified
Reaching and catching objects
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Severe
Walking short distances
Permanent limitation
Severe
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Unspecified
Eating
Permanent limitation
Moderate
Falling asleep
Permanent limitation
Severe
Staying asleep
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Low
Source: Pr Geert MORTIER[Expert]
Last update: 09/06/2015

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