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ORPHA:163746  Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

:: 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
Hearing/listening
Permanent limitation
Moderate
Acquiring language
Permanent limitation
Moderate
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Moderate
Receiving spoken messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Complete
Interacting with other people
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
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Complete
Accessing higher education
Permanent limitation
Complete
Engaging in paid work in a standard environment
Permanent limitation
Complete
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Severe
Handling money/managing one's own budget
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Moderate
Undertaking a complex/multiple task
Permanent limitation
Severe
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Severe
Practicing sports
Permanent limitation
Complete
Participating in the arts and cultural activities
Permanent limitation
Severe
Travelling
Permanent limitation
Complete
Frequent
Temporality
Severity
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Calculating
Permanent limitation
Moderate
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
Orienting oneself
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Moderate
Producing messages in sign language
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Moderate
Standing
Permanent limitation
Moderate
Sitting
Permanent limitation
Moderate
Bending
Permanent limitation
Moderate
Maintaining a standing position
Permanent limitation
Moderate
Maintaining head position
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Severe
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
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
Severe
Moving around within the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Severe
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Not defined
Engaging in sexual relationships
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
Light intensity
Light quality
Sound intensity
Sound quality
Vibrations
Source: Dr Sandrine MARLIN[Expert]
Last update: 23/08/2016

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