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ORPHA:284973  Marfan syndrome type 2

:: 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
Reaching and catching objects
Permanent limitation
Low
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Low
Walking long distances
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
Staying asleep
Permanent limitation
Moderate
Getting good quality sleep
Permanent limitation
Moderate
Staying awake
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Interacting with other people
Transient limitation
Moderate
Making/keeping friends
Transient limitation
Moderate
Maintaining family relationships
Transient limitation
Moderate
Dealing with strangers
Transient limitation
Moderate
Engaging in and maintaining intimate relationships
Transient limitation
Moderate
Engaging in sexual relationships
Transient limitation
Moderate
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Transient limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Transient limitation
Moderate
Engaging in paid work in a standard environment
Transient limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Severe
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Bending
Permanent limitation
Low
Dressing/undressing
Permanent limitation
Low
Getting good quality sleep
Permanent limitation
Severe
Staying awake
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Handling emotions and mood
Permanent limitation
Low
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
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.

Humidity
Source: Dr Janine-Sophie GIRAUDET-LE QUINTREC[Expert]_Loeys Dietz Syndrome Foundation[Patient organisation]
Last update: 01/09/2016

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