Orphanet: Disability
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ORPHA:98673  Autosomal dominant optic atrophy, classic form

:: 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
Very frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Moderate
Frequent
Temporality
Severity
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Moderate
Writing messages
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Moderate
Maintaining family relationships
Permanent limitation
Moderate
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Low
Handling money/managing one's own budget
Permanent limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Low
Carrying out daily routines
Permanent limitation
Low
Practicing sports
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Severe
Not defined
Engaging in and maintaining intimate relationships
Engaging in sexual relationships
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.

Food
Light intensity
Light quality
Sound intensity
Sound quality
Source: [Expert]
Last update: 03/08/2020

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