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ORPHA:94147  Spinocerebellar ataxia type 7

:: 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
Seeing/watching
Permanent limitation
Severe
Seeing/watching
Permanent limitation
Moderate to severe
Speaking
Permanent limitation
Moderate
Writing messages
Permanent limitation
Moderate
Standing
Permanent limitation
Moderate
Bending
Permanent limitation
Moderate
Transferring oneself
Permanent limitation
Moderate
Maintaining a standing position
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Eating
Permanent limitation
Moderate
Drinking
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Using transportation
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
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Unspecified
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Speaking
Permanent limitation
Low
Writing messages
Permanent limitation
Severe
Writing messages
Permanent limitation
Low
Standing
Permanent limitation
Severe
Standing
Permanent limitation
Low
Sitting
Permanent limitation
Severe
Sitting
Permanent limitation
Moderate
Sitting
Permanent limitation
Low
Bending
Permanent limitation
Severe
Bending
Permanent limitation
Low
Transferring oneself
Permanent limitation
Severe
Transferring oneself
Permanent limitation
Low
Maintaining a standing position
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Low
Maintaining head position
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Low
Lifting and carrying objects
Permanent limitation
Severe
Lifting and carrying objects
Permanent limitation
Low
Handling objects (fine hand use)
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Low
Walking short distances
Permanent limitation
Severe
Walking short distances
Permanent limitation
Low
Walking long distances
Permanent limitation
Severe
Walking long distances
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Washing oneself
Permanent limitation
Severe
Washing oneself
Permanent 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
Low
Regulating urination
Permanent limitation
Severe
Regulating urination
Permanent limitation
Low
Regulating defecation
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Low
Dressing/undressing
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Low
Eating
Permanent limitation
Severe
Eating
Permanent limitation
Low
Drinking
Permanent limitation
Severe
Drinking
Permanent 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
Low
Moving around within the home
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Low
Moving around outside the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Low
Using transportation
Permanent limitation
Severe
Using transportation
Permanent limitation
Low
Shopping
Permanent limitation
Severe
Shopping
Permanent limitation
Low
Cooking/preparing meals
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Low
Doing housework
Permanent limitation
Severe
Doing housework
Permanent limitation
Low
Looking after/helping others
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Low
Attending preschool
Permanent limitation
Severe
Attending mainstream school
Permanent limitation
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate to severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Severe
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Low
Undertaking a complex/multiple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Low
Carrying out daily routines
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Low
Taking part in community life
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Low
Playing with others
Permanent limitation
Severe
Playing with others
Permanent limitation
Low
Practicing sports
Permanent limitation
Severe
Practicing sports
Permanent 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
Travelling
Permanent limitation
Severe
Travelling
Permanent limitation
Low
Source: [Expert]
Last update: 01/07/2019

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