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ORPHA:98756  Spinocerebellar ataxia 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
Very frequent
Temporality
Severity
Writing
Permanent limitation
Moderate
Speaking
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Standing
Permanent limitation
Severe
Sitting
Permanent limitation
Severe
Bending
Permanent limitation
Unspecified
Transferring oneself
Permanent limitation
Severe
Maintaining a standing position
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Severe
Walking short distances
Permanent limitation
Complete
Walking long distances
Permanent limitation
Complete
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Complete
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Regulating urination
Permanent limitation
Severe
Regulating defecation
Permanent limitation
Severe
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Severe
Drinking
Permanent limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Severe
Moving around within the home
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Complete
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Complete
Carrying out daily routines
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Complete
Participating in the arts and cultural activities
Permanent limitation
Moderate
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Focusing attention
Permanent limitation
Severe
Memorizing and retrieving
Permanent limitation
Low
Producing messages in sign language
Permanent limitation
Unspecified
Producing nonverbal messages
Permanent limitation
Unspecified
Using communication devices
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Severe
Carrying out administrative procedures
Permanent limitation
Moderate
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Severe
Taking part in community life
Permanent limitation
Moderate
Playing with others
Permanent limitation
Severe
Occasional
Temporality
Severity
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Falling asleep
Permanent limitation
Low
Staying asleep
Permanent limitation
Low
Getting good quality sleep
Permanent limitation
Low
Staying awake
Permanent limitation
Low
Handling emotions and mood
Permanent limitation
Unspecified
Engaging in sexual relationships
Permanent limitation
Unspecified
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Handling money/managing one's own budget
Permanent limitation
Unspecified
Source: Expert
Last update: 01/07/2019

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