Search for a disease and its functional consequences
ORPHA:248111 Juvenile Huntington disease
:: 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
Focusing attention
Permanent limitation
Severe
Memorizing and retrieving
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Being aware of time
Permanent limitation
Complete
Being aware of space
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Unspecified
Receiving nonverbal messages
Permanent limitation
Unspecified
Receiving written messages
Permanent limitation
Complete
Speaking
Permanent limitation
Complete
Producing nonverbal messages
Permanent limitation
Unspecified
Writing messages
Permanent limitation
Complete
Standing
Permanent limitation
Unspecified
Sitting
Permanent limitation
Unspecified
Bending
Permanent limitation
Unspecified
Transferring oneself
Permanent limitation
Unspecified
Maintaining a standing position
Permanent limitation
Complete
Maintaining head position
Permanent limitation
Unspecified
Handling objects (fine hand use)
Permanent limitation
Complete
Walking long distances
Permanent limitation
Complete
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Complete
Handling emotions and mood
Permanent limitation
Severe
Controlling one's own general behaviour
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Interacting with other people
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Severe
Maintaining family relationships
Permanent limitation
Severe
Dealing with strangers
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Severe
Engaging in sexual relationships
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Accessing higher education
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Complete
Performing professional tasks
Permanent limitation
Complete
Handling money/managing one's own budget
Permanent limitation
Unspecified
Carrying out administrative procedures
Permanent limitation
Complete
Socializing
Permanent limitation
Severe
Practicing sports
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Reading
Permanent limitation
Complete
Reading
Permanent limitation
Severe
Writing
Permanent limitation
Complete
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Complete
Calculating
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Complete
Participating in a conversation
Permanent limitation
Severe
Using communication devices
Permanent limitation
Complete
Using communication devices
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Complete
Reaching and catching objects
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Complete
Lifting and carrying objects
Permanent limitation
Severe
Walking short distances
Permanent limitation
Complete
Walking short distances
Permanent limitation
Severe
Washing oneself
Permanent limitation
Complete
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Complete
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Regulating urination
Permanent limitation
Complete
Regulating urination
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Complete
Regulating defecation
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Complete
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Complete
Eating
Permanent limitation
Severe
Drinking
Permanent limitation
Complete
Drinking
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Complete
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Falling asleep
Permanent limitation
Severe
Staying asleep
Permanent limitation
Severe
Getting good quality sleep
Permanent limitation
Severe
Staying awake
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Complete
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Controlling one's own eating behaviour
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Complete
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Complete
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Complete
Using transportation
Permanent limitation
Severe
Shopping
Permanent limitation
Complete
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Complete
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Complete
Doing housework
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Complete
Looking after/helping others
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Unspecified
Undertaking a simple task
Permanent limitation
Complete
Undertaking a simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Complete
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Complete
Carrying out daily routines
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Complete
Taking part in community life
Permanent limitation
Severe
Occasional
Temporality
Severity
Acquiring language
Permanent limitation
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Unspecified
Attending school in an adapted mainstream/special environment
Permanent limitation
Unspecified
Playing with others
Permanent limitation
Severe
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
Day/night cycles
Seasonal cycles
Sound intensity
Sound quality
Source: Dr Katia YOUSSOV[Expert]_Collectif inter-associatif Maladie de Huntington[Patient organisation]_Pr Anne-Catherine BACHOUD-LEVI[Expert]
Last update: 30/01/2017
Last update: 30/01/2017
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