Orphanet: Disability
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ORPHA:358  Gitelman 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
Frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Focusing attention
Permanent limitation
Moderate
Memorizing and retrieving
Permanent limitation
Moderate
Thinking and reasoning
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Unspecified
Walking long distances
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Low
Regulating urination
Permanent limitation
Moderate
Falling asleep
Acquisition delay
Moderate
Staying asleep
Acquisition delay
Severe
Getting good quality sleep
Acquisition delay
Moderate
Staying awake
Acquisition delay
Unspecified
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Moderate
Handling emotions and mood
Transient limitation
Moderate
Controlling one's own general behaviour
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Unspecified
Shopping
Permanent limitation
Unspecified
Doing housework
Permanent limitation
Unspecified
Doing housework
Transient limitation
Unspecified
Looking after/helping others
Transient limitation
Unspecified
Attending mainstream school
Permanent limitation
Low
Attending mainstream school
Transient limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Transient limitation
Unspecified
Accessing higher education
Permanent limitation
Low
Accessing higher education
Transient limitation
Unspecified
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Unspecified
Practicing sports
Transient limitation
Low
Occasional
Temporality
Severity
Writing
Transient limitation
Unspecified
Speaking
Transient limitation
Unspecified
Writing messages
Transient limitation
Unspecified
Using communication devices
Transient limitation
Unspecified
Reaching and catching objects
Transient limitation
Unspecified
Lifting and carrying objects
Transient limitation
Unspecified
Handling objects (fine hand use)
Transient limitation
Unspecified
Walking short distances
Transient limitation
Low
Falling asleep
Transient limitation
Low
Staying asleep
Transient limitation
Low
Getting good quality sleep
Transient limitation
Low
Staying awake
Transient limitation
Low
Controlling one's own eating behaviour
Transient limitation
Low
Moving around within the home
Transient limitation
Low
Moving around outside the home
Transient limitation
Low
Using transportation
Transient limitation
Low
Driving
Transient limitation
Low
Interacting with other people
Transient limitation
Low
Making/keeping friends
Transient limitation
Low
Maintaining family relationships
Transient limitation
Low
Dealing with strangers
Transient limitation
Low
Engaging in and maintaining intimate relationships
Transient limitation
Low
Engaging in sexual relationships
Transient limitation
Low
Shopping
Transient limitation
Unspecified
Cooking/preparing meals
Transient limitation
Unspecified
Engaging in paid work in a standard environment
Transient limitation
Low
Seeking employment
Permanent limitation
Moderate
Seeking employment
Transient limitation
Unspecified
Performing professional tasks
Permanent limitation
Severe
Performing professional tasks
Transient limitation
Low
Undertaking a simple task
Transient limitation
Unspecified
Undertaking a complex/multiple task
Transient limitation
Unspecified
Carrying out daily routines
Transient limitation
Unspecified
Taking part in community life
Transient limitation
Low
Playing with others
Transient limitation
Low
Socializing
Transient limitation
Low
Participating in the arts and cultural activities
Transient limitation
Unspecified
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
Temperature
Day/night cycles
Seasonal cycles
Source: Dr Alberto BETTINELLI[Expert]_Dr Mario G BIANCHETTI[Expert]_Dr Fernando SANTOS[Expert]_Bartter Syndrome Foundation[Patient organisation]_Pr Olivier Devuyst[Expert]
Last update: 27/05/2015

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