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ORPHA:93256  Fragile X-associated tremor/ataxia syndrome

:: 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
Moderate
Memorizing and retrieving
Permanent limitation
Severe
Thinking and reasoning
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Regulating urination
Permanent limitation
Severe
Handling emotions and mood
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Unspecified
Engaging in and maintaining intimate relationships
Permanent limitation
Unspecified
Engaging in sexual relationships
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Seeking employment
Permanent limitation
Unspecified
Performing professional tasks
Permanent limitation
Unspecified
Handling money/managing one's own budget
Permanent limitation
Unspecified
Carrying out administrative procedures
Permanent limitation
Severe
Socializing
Permanent limitation
Unspecified
Practicing sports
Permanent limitation
Unspecified
Travelling
Permanent limitation
Unspecified
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Moderate
Writing
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Calculating
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Complete
Making decisions/taking initiatives/finding solutions
Permanent limitation
Complete
Receiving written messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Severe
Speaking
Permanent limitation
Moderate
Writing messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Severe
Using communication devices
Permanent limitation
Moderate
Standing
Permanent limitation
Severe
Standing
Permanent limitation
Moderate
Transferring oneself
Permanent limitation
Severe
Transferring oneself
Permanent limitation
Moderate
Maintaining a standing position
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Severe
Walking short distances
Permanent limitation
Severe
Walking short distances
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Severe
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Moderate
Eating
Permanent limitation
Severe
Eating
Permanent limitation
Moderate
Drinking
Permanent limitation
Severe
Drinking
Permanent limitation
Moderate
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
Sleeping/staying awake
Permanent limitation
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Severe
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Severe
Controlling one's own general behaviour
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Moderate
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Severe
Interacting with other people
Permanent limitation
Severe
Making/keeping friends
Permanent limitation
Moderate
Shopping
Permanent limitation
Severe
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Severe
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Undertaking a simple task
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Severe
Playing with others
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Moderate
Occasional
Temporality
Severity
Reading
Permanent limitation
Low
Being aware of time
Permanent limitation
Complete
Being aware of space
Permanent limitation
Complete
Receiving spoken messages
Permanent limitation
Low
Receiving messages in sign language
Permanent limitation
Low
Receiving nonverbal messages
Permanent limitation
Low
Producing nonverbal messages
Permanent limitation
Low
Bending
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Complete
Temperament and behaviour
Permanent limitation
Complete
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Complete
Handling emotions and mood
Permanent limitation
Complete
Controlling one's own general behaviour
Permanent limitation
Complete
Maintaining family relationships
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Severe
Dealing with strangers
Permanent limitation
Moderate
Not defined
Falling asleep
Staying asleep
Getting good quality sleep
Staying awake
Controlling one's own eating behaviour
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
Day/night cycles
Sound intensity
Sound quality
Source: Expert
Last update: 11/05/2015

Additional information

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