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ORPHA:772 Infantile Refsum 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.

Environmental factors may however require particular attention for an optimal management of this disease. This information is restricted to the consequences of the disease and its management on functioning and daily life. Clinical aspects (including fatigue, pain, impact of the disease on the patient’s psychological state) are described through other documents (i.e. Disability factsheets).

Loss of an ability
Very frequent

Temporality
Severity
Acquiring language
Permanent limitation
Severe
Calculating
Permanent limitation
Severe
Focusing attention
Permanent limitation
Severe
Hearing/listening
Permanent limitation
Severe
Learning to calculate
Permanent limitation
Severe
Learning to read
Permanent limitation
Severe
Learning to write
Permanent limitation
Severe
Making decisions/taking initiatives/finding solutions
Permanent limitation
Severe
Participating in a conversation
Permanent limitation
Severe
Producing messages in sign language
Permanent limitation
Severe
Producing nonverbal messages
Permanent limitation
Severe
Reading
Permanent limitation
Severe
Receiving messages in sign language
Permanent limitation
Severe
Receiving nonverbal messages
Permanent limitation
Severe
Receiving spoken messages
Permanent limitation
Severe
Receiving written messages
Permanent limitation
Severe
Seeing/watching
Permanent limitation
Severe
Speaking
Permanent limitation
Severe
Using communication devices
Permanent limitation
Severe
Writing
Permanent limitation
Severe
Writing messages
Permanent limitation
Severe
Occasional

Temporality
Severity
Acquiring language
Permanent limitation
Low
Acquiring language
Permanent limitation
Moderate
Calculating
Permanent limitation
Low
Calculating
Permanent limitation
Moderate
Focusing attention
Permanent limitation
Low
Focusing attention
Permanent limitation
Moderate
Learning to calculate
Permanent limitation
Low
Learning to calculate
Permanent limitation
Moderate
Learning to read
Permanent limitation
Low
Learning to read
Permanent limitation
Moderate
Learning to write
Permanent limitation
Low
Learning to write
Permanent limitation
Moderate
Making decisions/taking initiatives/finding solutions
Permanent limitation
Low
Making decisions/taking initiatives/finding solutions
Permanent limitation
Moderate
Participating in a conversation
Permanent limitation
Low
Participating in a conversation
Permanent limitation
Moderate
Producing messages in sign language
Permanent limitation
Low
Producing messages in sign language
Permanent limitation
Moderate
Producing nonverbal messages
Permanent limitation
Low
Producing nonverbal messages
Permanent limitation
Moderate
Reading
Permanent limitation
Low
Reading
Permanent limitation
Moderate
Receiving messages in sign language
Permanent limitation
Low
Receiving messages in sign language
Permanent limitation
Moderate
Receiving nonverbal messages
Permanent limitation
Low
Receiving nonverbal messages
Permanent limitation
Moderate
Receiving spoken messages
Permanent limitation
Low
Receiving spoken messages
Permanent limitation
Moderate
Receiving written messages
Permanent limitation
Low
Receiving written messages
Permanent limitation
Moderate
Speaking
Permanent limitation
Low
Speaking
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Low
Using communication devices
Permanent limitation
Moderate
Writing
Permanent limitation
Low
Writing
Permanent limitation
Moderate
Writing messages
Permanent limitation
Low
Writing messages
Permanent limitation
Moderate
Not defined

Accessing higher education
Attending mainstream school
Attending preschool
Attending school in an adapted mainstream/special environment
Bending
Caring for body parts (skin, teeth, nails, hair, genitals)
Dressing/undressing
Drinking
Driving
Eating
Education
Handling objects (fine hand use)
Household
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Learning a profession (vocational training/apprenticeship) in the standard environment
Life management
Lifting and carrying objects
Maintaining a standing position
Maintaining head position
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Moving around outside the home
Moving around within the home
Performing vigorous activities (climbing, running, jumping, swimming,...)
Reaching and catching objects
Regulating defecation
Regulating urination
Sitting
Standing
Transferring oneself
Using transportation
Walking long distances
Walking short distances
Washing oneself
Work and economic life
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.

Sound quality
Air quality
Food
Light intensity
Light quality
Sound intensity
Source: Dr Nancy BRAVERMAN[Expert]
Last update: 01/11/2022

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The documents contained in thisweb site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.