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ORPHA:3129  Sarcosinemia

:: 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
Acquiring language
Transient limitation
Moderate
Driving
Permanent limitation
Complete
Accessing higher education
Permanent limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Severe
Frequent
Temporality
Severity
Focusing attention
Permanent limitation
Moderate
Focusing attention
Acquisition delay
Moderate
Memorizing and retrieving
Permanent limitation
Moderate
Memorizing and retrieving
Acquisition delay
Moderate
Thinking and reasoning
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Acquisition delay
Low
Being aware of time
Permanent limitation
Low
Being aware of time
Acquisition delay
Low
Writing messages
Permanent limitation
Moderate
Writing messages
Acquisition delay
Moderate
Using communication devices
Permanent limitation
Low
Using communication devices
Acquisition delay
Low
Standing
Permanent limitation
Low
Standing
Acquisition delay
Moderate
Sitting
Permanent limitation
Low
Sitting
Acquisition delay
Moderate
Transferring oneself
Permanent limitation
Low
Transferring oneself
Acquisition delay
Moderate
Maintaining a standing position
Permanent limitation
Moderate
Maintaining a standing position
Acquisition delay
Moderate
Reaching and catching objects
Permanent limitation
Low
Reaching and catching objects
Acquisition delay
Low
Lifting and carrying objects
Permanent limitation
Low
Lifting and carrying objects
Acquisition delay
Low
Handling objects (fine hand use)
Permanent limitation
Low
Handling objects (fine hand use)
Acquisition delay
Low
Walking short distances
Permanent limitation
Low
Walking short distances
Acquisition delay
Low
Walking long distances
Permanent limitation
Moderate
Walking long distances
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Low
Dressing/undressing
Permanent limitation
Low
Dressing/undressing
Acquisition delay
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Acquisition delay
Moderate
Handling emotions and mood
Acquisition delay
Moderate
Controlling one's own general behaviour
Acquisition delay
Moderate
Controlling one's own eating behaviour
Acquisition delay
Moderate
Cooking/preparing meals
Permanent limitation
Low
Cooking/preparing meals
Acquisition delay
Low
Attending mainstream school
Permanent limitation
Low
Attending mainstream school
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Low
Seeking employment
Permanent limitation
Low
Seeking employment
Acquisition delay
Low
Undertaking a complex/multiple task
Permanent limitation
Low
Undertaking a complex/multiple task
Acquisition delay
Low
Socializing
Permanent limitation
Low
Socializing
Acquisition delay
Low
Practicing sports
Permanent limitation
Moderate
Practicing sports
Acquisition delay
Moderate
Participating in the arts and cultural activities
Permanent limitation
Low
Participating in the arts and cultural activities
Acquisition delay
Low
Travelling
Permanent limitation
Low
Travelling
Acquisition delay
Low
Occasional
Temporality
Severity
Bending
Permanent limitation
Moderate
Bending
Acquisition delay
Moderate
Handling emotions and mood
Permanent limitation
Low
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own eating behaviour
Permanent limitation
Low
Shopping
Permanent limitation
Low
Shopping
Acquisition delay
Low
Doing housework
Permanent limitation
Low
Doing housework
Acquisition delay
Low
Accessing higher education
Acquisition delay
Moderate
Engaging in paid work in a standard environment
Acquisition delay
Moderate
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
Source: Expert
Last update: 28/08/2019

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