Orphanet: Disability
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ORPHA:550  MELAS

:: 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.

:: The functional consequences listed below are related to the most common situation of the patients receiving optimal standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support).
However, some patients may receive a particular management (neonatal screening, new treatment, management applying only in specific situations) enabling a better functioning, that is not described here.

 Loss of an ability
Frequent
Temporality
Severity
Seeing/watching
Transient limitation
Severe
Hearing/listening
Permanent limitation
Unspecified
Hearing/listening
Transient limitation
Severe
Acquiring language
Transient limitation
Severe
Learning to read
Permanent limitation
Unspecified
Learning to read
Transient limitation
Severe
Learning to write
Permanent limitation
Unspecified
Learning to write
Transient limitation
Severe
Learning to calculate
Permanent limitation
Unspecified
Learning to calculate
Transient limitation
Severe
Reading
Transient limitation
Severe
Writing
Transient limitation
Severe
Calculating
Transient limitation
Severe
Focusing attention
Permanent limitation
Unspecified
Focusing attention
Transient limitation
Severe
Memorizing and retrieving
Permanent limitation
Unspecified
Memorizing and retrieving
Transient limitation
Severe
Thinking and reasoning
Permanent limitation
Unspecified
Thinking and reasoning
Transient limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Unspecified
Making decisions/taking initiatives/finding solutions
Transient limitation
Severe
Being aware of time
Transient limitation
Severe
Being aware of space
Transient limitation
Severe
Receiving spoken messages
Transient limitation
Moderate
Receiving messages in sign language
Transient limitation
Moderate
Receiving nonverbal messages
Transient limitation
Moderate
Receiving written messages
Transient limitation
Moderate
Speaking
Transient limitation
Moderate
Producing messages in sign language
Transient limitation
Moderate
Producing nonverbal messages
Transient limitation
Moderate
Writing messages
Transient limitation
Moderate
Participating in a conversation
Transient limitation
Moderate
Using communication devices
Transient limitation
Moderate
Standing
Transient limitation
Moderate
Sitting
Transient limitation
Severe
Bending
Transient limitation
Severe
Transferring oneself
Transient limitation
Severe
Maintaining a standing position
Transient limitation
Severe
Maintaining head position
Transient limitation
Severe
Reaching and catching objects
Transient limitation
Severe
Lifting and carrying objects
Transient limitation
Severe
Handling objects (fine hand use)
Transient limitation
Severe
Walking short distances
Transient limitation
Severe
Walking long distances
Transient limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Severe
Washing oneself
Transient limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Severe
Regulating urination
Transient limitation
Severe
Regulating defecation
Transient limitation
Severe
Eating
Transient limitation
Severe
Drinking
Transient limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Severe
Moving around within the home
Permanent limitation
Unspecified
Moving around within the home
Transient limitation
Severe
Moving around outside the home
Permanent limitation
Unspecified
Moving around outside the home
Transient limitation
Severe
Using transportation
Permanent limitation
Unspecified
Using transportation
Transient limitation
Severe
Driving
Permanent limitation
Unspecified
Driving
Transient limitation
Severe
Interacting with other people
Permanent limitation
Unspecified
Interacting with other people
Transient limitation
Moderate
Making/keeping friends
Permanent limitation
Unspecified
Making/keeping friends
Transient limitation
Moderate
Maintaining family relationships
Permanent limitation
Unspecified
Maintaining family relationships
Transient limitation
Moderate
Dealing with strangers
Permanent limitation
Unspecified
Dealing with strangers
Transient limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Unspecified
Engaging in and maintaining intimate relationships
Transient limitation
Moderate
Engaging in sexual relationships
Permanent limitation
Unspecified
Engaging in sexual relationships
Transient limitation
Moderate
Shopping
Permanent limitation
Unspecified
Shopping
Transient limitation
Severe
Cooking/preparing meals
Permanent limitation
Unspecified
Cooking/preparing meals
Transient limitation
Severe
Doing housework
Permanent limitation
Unspecified
Doing housework
Transient limitation
Severe
Looking after/helping others
Permanent limitation
Unspecified
Looking after/helping others
Transient limitation
Severe
Attending preschool
Permanent limitation
Unspecified
Attending preschool
Transient limitation
Severe
Attending mainstream school
Permanent limitation
Unspecified
Attending mainstream school
Transient limitation
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Unspecified
Attending school in an adapted mainstream/special environment
Transient limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in the standard environment
Transient limitation
Severe
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Unspecified
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Transient limitation
Severe
Accessing higher education
Permanent limitation
Unspecified
Accessing higher education
Transient limitation
Severe
Engaging in paid work in a standard environment
Permanent limitation
Unspecified
Engaging in paid work in a standard environment
Transient limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Unspecified
Engaging in paid work in a supported/sheltered environment
Transient limitation
Severe
Seeking employment
Permanent limitation
Unspecified
Seeking employment
Transient limitation
Severe
Performing professional tasks
Permanent limitation
Unspecified
Performing professional tasks
Transient limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Unspecified
Handling money/managing one's own budget
Transient limitation
Severe
Carrying out administrative procedures
Permanent limitation
Unspecified
Carrying out administrative procedures
Transient limitation
Severe
Undertaking a simple task
Permanent limitation
Unspecified
Undertaking a simple task
Transient limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Unspecified
Undertaking a complex/multiple task
Transient limitation
Severe
Carrying out daily routines
Permanent limitation
Unspecified
Carrying out daily routines
Transient limitation
Severe
Taking part in community life
Permanent limitation
Unspecified
Taking part in community life
Transient limitation
Severe
Playing with others
Permanent limitation
Unspecified
Playing with others
Acquisition delay
Severe
Socializing
Permanent limitation
Unspecified
Socializing
Transient limitation
Severe
Practicing sports
Permanent limitation
Unspecified
Practicing sports
Transient limitation
Severe
Participating in the arts and cultural activities
Permanent limitation
Unspecified
Participating in the arts and cultural activities
Transient limitation
Severe
Travelling
Permanent limitation
Unspecified
Travelling
Transient limitation
Severe
Occasional
Temporality
Severity
Seeing/watching
Permanent limitation
Unspecified
Seeing/watching
Acquisition delay
Low
Hearing/listening
Acquisition delay
Low
Acquiring language
Permanent limitation
Unspecified
Acquiring language
Acquisition delay
Low
Learning to read
Acquisition delay
Low
Learning to write
Acquisition delay
Low
Learning to calculate
Acquisition delay
Low
Reading
Permanent limitation
Unspecified
Reading
Acquisition delay
Low
Writing
Permanent limitation
Unspecified
Writing
Acquisition delay
Low
Calculating
Permanent limitation
Unspecified
Calculating
Acquisition delay
Low
Focusing attention
Acquisition delay
Low
Memorizing and retrieving
Acquisition delay
Low
Thinking and reasoning
Acquisition delay
Low
Making decisions/taking initiatives/finding solutions
Acquisition delay
Low
Being aware of time
Permanent limitation
Unspecified
Being aware of time
Acquisition delay
Low
Being aware of space
Permanent limitation
Unspecified
Being aware of space
Acquisition delay
Low
Receiving spoken messages
Permanent limitation
Unspecified
Receiving spoken messages
Acquisition delay
Low
Receiving messages in sign language
Permanent limitation
Unspecified
Receiving messages in sign language
Acquisition delay
Low
Receiving nonverbal messages
Permanent limitation
Unspecified
Receiving nonverbal messages
Acquisition delay
Low
Receiving written messages
Permanent limitation
Unspecified
Receiving written messages
Acquisition delay
Low
Speaking
Permanent limitation
Unspecified
Speaking
Acquisition delay
Low
Producing messages in sign language
Permanent limitation
Unspecified
Producing messages in sign language
Acquisition delay
Low
Producing nonverbal messages
Permanent limitation
Unspecified
Producing nonverbal messages
Acquisition delay
Low
Writing messages
Permanent limitation
Unspecified
Writing messages
Acquisition delay
Low
Participating in a conversation
Permanent limitation
Unspecified
Participating in a conversation
Acquisition delay
Low
Using communication devices
Permanent limitation
Unspecified
Using communication devices
Acquisition delay
Low
Standing
Permanent limitation
Unspecified
Standing
Acquisition delay
Low
Sitting
Permanent limitation
Unspecified
Sitting
Acquisition delay
Low
Bending
Permanent limitation
Unspecified
Bending
Acquisition delay
Unspecified
Transferring oneself
Permanent limitation
Unspecified
Transferring oneself
Acquisition delay
Low
Maintaining a standing position
Permanent limitation
Unspecified
Maintaining a standing position
Acquisition delay
Low
Maintaining head position
Permanent limitation
Unspecified
Maintaining head position
Acquisition delay
Low
Reaching and catching objects
Permanent limitation
Unspecified
Reaching and catching objects
Acquisition delay
Low
Lifting and carrying objects
Permanent limitation
Unspecified
Lifting and carrying objects
Acquisition delay
Low
Handling objects (fine hand use)
Permanent limitation
Unspecified
Handling objects (fine hand use)
Acquisition delay
Low
Walking short distances
Permanent limitation
Unspecified
Walking short distances
Acquisition delay
Low
Walking long distances
Permanent limitation
Unspecified
Walking long distances
Acquisition delay
Low
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Low
Washing oneself
Permanent limitation
Unspecified
Washing oneself
Acquisition delay
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Low
Regulating urination
Permanent limitation
Unspecified
Regulating urination
Acquisition delay
Low
Regulating defecation
Permanent limitation
Unspecified
Regulating defecation
Acquisition delay
Low
Eating
Permanent limitation
Unspecified
Eating
Acquisition delay
Low
Drinking
Permanent limitation
Unspecified
Drinking
Acquisition delay
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Unspecified
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
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Moderate
Handling emotions and mood
Permanent limitation
Low
Handling emotions and mood
Acquisition delay
Low
Handling emotions and mood
Transient limitation
Moderate
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own general behaviour
Acquisition delay
Low
Controlling one's own general behaviour
Transient limitation
Moderate
Controlling one's own eating behaviour
Permanent limitation
Low
Controlling one's own eating behaviour
Acquisition delay
Low
Controlling one's own eating behaviour
Transient limitation
Moderate
Shopping
Acquisition delay
Low
Cooking/preparing meals
Acquisition delay
Low
Doing housework
Acquisition delay
Low
Looking after/helping others
Acquisition delay
Low
Attending preschool
Acquisition delay
Low
Attending mainstream school
Acquisition delay
Low
Attending school in an adapted mainstream/special environment
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Acquisition delay
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Acquisition delay
Low
Accessing higher education
Acquisition delay
Low
Engaging in paid work in a standard environment
Acquisition delay
Low
Engaging in paid work in a supported/sheltered environment
Acquisition delay
Low
Seeking employment
Acquisition delay
Low
Performing professional tasks
Acquisition delay
Low
Handling money/managing one's own budget
Acquisition delay
Low
Carrying out administrative procedures
Acquisition delay
Low
Undertaking a simple task
Acquisition delay
Low
Undertaking a complex/multiple task
Acquisition delay
Low
Carrying out daily routines
Acquisition delay
Low
Taking part in community life
Acquisition delay
Low
Playing with others
Acquisition delay
Low
Socializing
Acquisition delay
Low
Practicing sports
Acquisition delay
Low
Participating in the arts and cultural activities
Acquisition delay
Low
Travelling
Acquisition delay
Low
Source: Pr Brigitte CHABROL[Expert]_Dr Annabelle CHAUSSENOT[Expert]_Association contre les Maladies Mitochondriales[Patient organisation]
Last update: 23/08/2018

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