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ORPHA:136  CADASIL

:: 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
Severe
Walking long distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Low
Walking long distances
Transient limitation
Severe
Walking long distances
Transient limitation
Moderate
Walking long distances
Transient limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Low
Handling emotions and mood
Permanent limitation
Severe
Handling emotions and mood
Permanent limitation
Moderate
Handling emotions and mood
Permanent limitation
Low
Handling emotions and mood
Transient limitation
Severe
Handling emotions and mood
Transient limitation
Moderate
Handling emotions and mood
Transient limitation
Low
Moving around outside the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Low
Moving around outside the home
Transient limitation
Severe
Moving around outside the home
Transient limitation
Moderate
Moving around outside the home
Transient limitation
Low
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Severe
Hearing/listening
Permanent limitation
Moderate
Hearing/listening
Permanent limitation
Low
Hearing/listening
Transient limitation
Severe
Hearing/listening
Transient limitation
Moderate
Hearing/listening
Transient limitation
Low
Reading
Permanent limitation
Severe
Reading
Permanent limitation
Moderate
Reading
Permanent limitation
Low
Reading
Transient limitation
Severe
Reading
Transient limitation
Moderate
Reading
Transient limitation
Low
Writing
Permanent limitation
Severe
Writing
Permanent limitation
Moderate
Writing
Permanent limitation
Low
Writing
Transient limitation
Severe
Writing
Transient limitation
Moderate
Writing
Transient limitation
Low
Calculating
Permanent limitation
Severe
Calculating
Permanent limitation
Moderate
Calculating
Permanent limitation
Low
Calculating
Transient limitation
Severe
Calculating
Transient limitation
Moderate
Calculating
Transient limitation
Low
Focusing attention
Permanent limitation
Severe
Focusing attention
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Low
Focusing attention
Transient limitation
Severe
Focusing attention
Transient limitation
Moderate
Focusing attention
Transient limitation
Low
Memorizing and retrieving
Permanent limitation
Severe
Memorizing and retrieving
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Low
Memorizing and retrieving
Transient limitation
Severe
Memorizing and retrieving
Transient limitation
Moderate
Memorizing and retrieving
Transient limitation
Low
Thinking and reasoning
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Low
Thinking and reasoning
Transient limitation
Severe
Thinking and reasoning
Transient limitation
Moderate
Thinking and reasoning
Transient limitation
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Complete
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Transient limitation
Complete
Making decisions/taking initiatives/finding solutions
Transient limitation
Severe
Making decisions/taking initiatives/finding solutions
Transient limitation
Moderate
Making decisions/taking initiatives/finding solutions
Transient limitation
Low
Receiving messages in sign language
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Low
Receiving nonverbal messages
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Low
Receiving written messages
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Low
Speaking
Permanent limitation
Severe
Speaking
Permanent limitation
Moderate
Speaking
Permanent limitation
Low
Producing nonverbal messages
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Low
Participating in a conversation
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Low
Using communication devices
Permanent limitation
Severe
Using communication devices
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Low
Standing
Permanent limitation
Severe
Standing
Permanent limitation
Moderate
Standing
Permanent limitation
Low
Standing
Transient limitation
Severe
Standing
Transient limitation
Moderate
Standing
Transient limitation
Low
Sitting
Permanent limitation
Severe
Sitting
Permanent limitation
Moderate
Sitting
Permanent limitation
Low
Sitting
Transient limitation
Severe
Sitting
Transient limitation
Moderate
Sitting
Transient limitation
Low
Bending
Permanent limitation
Severe
Bending
Permanent limitation
Moderate
Bending
Permanent limitation
Low
Bending
Transient limitation
Severe
Bending
Transient limitation
Moderate
Bending
Transient limitation
Low
Transferring oneself
Permanent limitation
Severe
Transferring oneself
Permanent limitation
Moderate
Transferring oneself
Permanent limitation
Low
Transferring oneself
Transient limitation
Severe
Transferring oneself
Transient limitation
Moderate
Transferring oneself
Transient limitation
Low
Maintaining a standing position
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Moderate
Maintaining a standing position
Permanent limitation
Low
Maintaining a standing position
Transient limitation
Severe
Maintaining a standing position
Transient limitation
Moderate
Maintaining a standing position
Transient limitation
Low
Reaching and catching objects
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Low
Reaching and catching objects
Transient limitation
Moderate
Reaching and catching objects
Transient limitation
Low
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Low
Lifting and carrying objects
Transient limitation
Moderate
Lifting and carrying objects
Transient limitation
Low
Handling objects (fine hand use)
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Low
Handling objects (fine hand use)
Transient limitation
Severe
Handling objects (fine hand use)
Transient limitation
Moderate
Handling objects (fine hand use)
Transient limitation
Low
Walking short distances
Permanent limitation
Severe
Walking short distances
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Low
Walking short distances
Transient limitation
Severe
Walking short distances
Transient limitation
Moderate
Walking short distances
Transient limitation
Low
Washing oneself
Permanent limitation
Severe
Washing oneself
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Low
Washing oneself
Transient limitation
Severe
Washing oneself
Transient limitation
Moderate
Washing oneself
Transient limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Low
Regulating urination
Permanent limitation
Severe
Regulating urination
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Low
Regulating urination
Transient limitation
Severe
Regulating urination
Transient limitation
Moderate
Regulating urination
Transient limitation
Low
Regulating defecation
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Low
Regulating defecation
Transient limitation
Severe
Regulating defecation
Transient limitation
Moderate
Regulating defecation
Transient limitation
Low
Dressing/undressing
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Low
Dressing/undressing
Transient limitation
Severe
Dressing/undressing
Transient limitation
Moderate
Dressing/undressing
Transient limitation
Low
Eating
Permanent limitation
Severe
Eating
Permanent limitation
Moderate
Eating
Permanent limitation
Low
Eating
Transient limitation
Severe
Eating
Transient limitation
Moderate
Eating
Transient limitation
Low
Drinking
Permanent limitation
Severe
Drinking
Permanent limitation
Moderate
Drinking
Permanent limitation
Low
Drinking
Transient limitation
Severe
Drinking
Transient limitation
Moderate
Drinking
Transient limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Low
Falling asleep
Permanent limitation
Severe
Falling asleep
Permanent limitation
Moderate
Falling asleep
Permanent limitation
Low
Staying asleep
Permanent limitation
Severe
Staying asleep
Permanent limitation
Moderate
Staying asleep
Permanent limitation
Low
Getting good quality sleep
Permanent limitation
Severe
Getting good quality sleep
Permanent limitation
Moderate
Getting good quality sleep
Permanent limitation
Low
Staying awake
Permanent limitation
Severe
Staying awake
Permanent limitation
Moderate
Staying awake
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Controlling one's own general behaviour
Permanent limitation
Severe
Controlling one's own general behaviour
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own general behaviour
Transient limitation
Severe
Controlling one's own general behaviour
Transient limitation
Moderate
Controlling one's own general behaviour
Transient limitation
Low
Moving around within the home
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Low
Moving around within the home
Transient limitation
Severe
Moving around within the home
Transient limitation
Moderate
Moving around within the home
Transient limitation
Low
Using transportation
Permanent limitation
Severe
Using transportation
Permanent limitation
Moderate
Using transportation
Permanent limitation
Low
Using transportation
Transient limitation
Severe
Using transportation
Transient limitation
Moderate
Using transportation
Transient limitation
Low
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Moderate
Interacting with other people
Permanent limitation
Low
Making/keeping friends
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Moderate
Making/keeping friends
Permanent limitation
Low
Maintaining family relationships
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Moderate
Maintaining family relationships
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Severe
Dealing with strangers
Permanent limitation
Moderate
Dealing with strangers
Permanent limitation
Low
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Low
Shopping
Permanent limitation
Severe
Shopping
Permanent limitation
Moderate
Shopping
Permanent limitation
Low
Shopping
Transient limitation
Severe
Shopping
Transient limitation
Moderate
Shopping
Transient limitation
Low
Cooking/preparing meals
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Low
Cooking/preparing meals
Transient limitation
Severe
Cooking/preparing meals
Transient limitation
Moderate
Cooking/preparing meals
Transient limitation
Low
Doing housework
Permanent limitation
Severe
Doing housework
Permanent limitation
Moderate
Doing housework
Permanent limitation
Low
Doing housework
Transient limitation
Severe
Doing housework
Transient limitation
Moderate
Doing housework
Transient limitation
Low
Looking after/helping others
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Low
Looking after/helping others
Transient limitation
Severe
Looking after/helping others
Transient limitation
Moderate
Looking after/helping others
Transient limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Low
Engaging in paid work in a standard environment
Transient limitation
Severe
Engaging in paid work in a standard environment
Transient limitation
Moderate
Engaging in paid work in a standard environment
Transient limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Transient limitation
Severe
Engaging in paid work in a supported/sheltered environment
Transient limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Transient limitation
Low
Seeking employment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Low
Seeking employment
Transient limitation
Severe
Seeking employment
Transient limitation
Moderate
Seeking employment
Transient limitation
Low
Performing professional tasks
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Low
Performing professional tasks
Transient limitation
Severe
Performing professional tasks
Transient limitation
Moderate
Performing professional tasks
Transient limitation
Low
Handling money/managing one's own budget
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Low
Handling money/managing one's own budget
Transient limitation
Severe
Handling money/managing one's own budget
Transient limitation
Moderate
Handling money/managing one's own budget
Transient limitation
Low
Carrying out administrative procedures
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Low
Carrying out administrative procedures
Transient limitation
Severe
Carrying out administrative procedures
Transient limitation
Moderate
Carrying out administrative procedures
Transient limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Low
Undertaking a complex/multiple task
Transient limitation
Severe
Undertaking a complex/multiple task
Transient limitation
Moderate
Undertaking a complex/multiple task
Transient limitation
Low
Carrying out daily routines
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Low
Carrying out daily routines
Transient limitation
Severe
Carrying out daily routines
Transient limitation
Moderate
Carrying out daily routines
Transient limitation
Low
Taking part in community life
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Taking part in community life
Transient limitation
Severe
Taking part in community life
Transient limitation
Moderate
Taking part in community life
Transient limitation
Low
Socializing
Permanent limitation
Severe
Socializing
Permanent limitation
Moderate
Socializing
Permanent limitation
Low
Socializing
Transient limitation
Severe
Socializing
Transient limitation
Moderate
Socializing
Transient limitation
Low
Practicing sports
Permanent limitation
Severe
Practicing sports
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Low
Practicing sports
Transient limitation
Severe
Practicing sports
Transient limitation
Moderate
Practicing sports
Transient limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Low
Participating in the arts and cultural activities
Transient limitation
Severe
Participating in the arts and cultural activities
Transient limitation
Moderate
Participating in the arts and cultural activities
Transient limitation
Low
Travelling
Permanent limitation
Severe
Travelling
Permanent limitation
Moderate
Travelling
Permanent limitation
Low
Travelling
Transient limitation
Severe
Travelling
Transient limitation
Moderate
Travelling
Transient limitation
Low
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
Sound intensity
Source: Pr Hugues CHABRIAT[Expert]_Dr Dominique HERVE[Expert]_CADASIL Together We Have Hope Nonprofit[Patient organisation]
Last update: 26/02/2019

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