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ORPHA:582  Mucopolysaccharidosis type 4

:: 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
Using objects
Permanent limitation
Moderate
Using objects
Acquisition delay
Low
Reaching and catching objects
Permanent limitation
Moderate
Reaching and catching objects
Acquisition delay
Low
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Acquisition delay
Low
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Acquisition delay
Low
Walking long distances
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Washing oneself
Permanent limitation
Moderate
Washing oneself
Acquisition delay
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Low
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Acquisition delay
Low
Frequent
Temporality
Severity
Hearing/listening
Permanent limitation
Moderate
Hearing/listening
Acquisition delay
Low
Hearing/listening
Transient limitation
Moderate
Drinking
Permanent limitation
Moderate
Drinking
Acquisition delay
Low
Moving around within the home
Permanent limitation
Severe
Moving around within the home
Acquisition delay
Severe
Moving around outside the home
Permanent limitation
Severe
Moving around outside the home
Acquisition delay
Severe
Moving around using transportation
Permanent limitation
Severe
Moving around using transportation
Acquisition delay
Severe
Using transportation
Permanent limitation
Severe
Using transportation
Acquisition delay
Severe
Taking part in community life
Permanent limitation
Moderate
Taking part in community life
Acquisition delay
Low
Playing with others
Permanent limitation
Moderate
Playing with others
Acquisition delay
Low
Socializing
Permanent limitation
Moderate
Socializing
Acquisition delay
Low
Practicing sports
Permanent limitation
Moderate
Practicing sports
Acquisition delay
Low
Occasional
Temporality
Severity
Changing body position
Permanent limitation
Moderate
Changing body position
Acquisition delay
Low
Changing body position
Transient limitation
Moderate
Bending
Permanent limitation
Moderate
Bending
Acquisition delay
Low
Bending
Transient limitation
Moderate
Using objects
Transient limitation
Low
Reaching and catching objects
Transient limitation
Low
Lifting and carrying objects
Transient limitation
Low
Handling objects (fine hand use)
Transient limitation
Low
Walking long distances
Acquisition delay
Unspecified
Walking long distances
Transient limitation
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Unspecified
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Unspecified
Washing oneself
Transient limitation
Unspecified
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Unspecified
Regulating urination
Permanent limitation
Low
Regulating urination
Acquisition delay
Low
Regulating urination
Transient limitation
Unspecified
Regulating defecation
Permanent limitation
Low
Regulating defecation
Acquisition delay
Low
Regulating defecation
Transient limitation
Unspecified
Dressing/undressing
Transient limitation
Unspecified
Eating
Permanent limitation
Low
Eating
Acquisition delay
Low
Eating
Transient limitation
Unspecified
Drinking
Transient limitation
Unspecified
Moving around within the home
Transient limitation
Unspecified
Moving around outside the home
Transient limitation
Unspecified
Moving around using transportation
Transient limitation
Unspecified
Using transportation
Transient limitation
Unspecified
Shopping
Permanent limitation
Moderate
Shopping
Acquisition delay
Low
Shopping
Transient limitation
Low
Cooking/preparing meals
Permanent limitation
Moderate
Cooking/preparing meals
Acquisition delay
Low
Cooking/preparing meals
Transient limitation
Low
Doing housework
Permanent limitation
Moderate
Doing housework
Acquisition delay
Low
Doing housework
Transient limitation
Low
Looking after/helping others
Permanent limitation
Moderate
Looking after/helping others
Acquisition delay
Low
Looking after/helping others
Transient limitation
Low
Taking part in community life
Transient limitation
Unspecified
Playing with others
Transient limitation
Unspecified
Socializing
Transient limitation
Unspecified
Practicing sports
Transient limitation
Unspecified
Participating in the arts and cultural activities
Permanent limitation
Moderate
Participating in the arts and cultural activities
Acquisition delay
Low
Participating in the arts and cultural activities
Transient limitation
Unspecified
Travelling
Permanent limitation
Moderate
Travelling
Acquisition delay
Low
Travelling
Transient limitation
Unspecified
Not defined
Walking short distances
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Driving
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
Air quality
Source: [Expert]
Last update: 01/07/2019

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