x

Search for a disease and its functional consequences

* (*) mandatory field

ORPHA:244  Primary ciliary dyskinesia

:: 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
Hearing/listening
Transient limitation
Moderate
Acquiring language
Transient limitation
Moderate
Handling emotions and mood
Transient limitation
Low
Attending preschool
Transient limitation
Moderate
Attending mainstream school
Transient limitation
Moderate
Engaging in paid work in a standard environment
Transient limitation
Unspecified
Frequent
Temporality
Severity
Acquiring language
Acquisition delay
Moderate
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Regulating defecation
Permanent limitation
Moderate
Regulating defecation
Transient limitation
Moderate
Shopping
Transient limitation
Low
Doing housework
Transient limitation
Low
Attending preschool
Transient limitation
Severe
Learning a profession (vocational training/apprenticeship) in the standard environment
Transient limitation
Moderate
Accessing higher education
Transient limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Transient limitation
Moderate
Playing with others
Transient limitation
Moderate
Occasional
Temporality
Severity
Hearing/listening
Permanent limitation
Severe
Acquiring language
Acquisition delay
Severe
Walking short distances
Permanent limitation
Severe
Walking short distances
Permanent limitation
Moderate
Walking short distances
Transient limitation
Moderate
Walking long distances
Permanent limitation
Severe
Walking long distances
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Severe
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Severe
Regulating defecation
Transient limitation
Severe
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Transient limitation
Moderate
Handling emotions and mood
Permanent limitation
Moderate
Handling emotions and mood
Transient limitation
Severe
Shopping
Permanent limitation
Low
Shopping
Transient limitation
Moderate
Doing housework
Permanent limitation
Low
Doing housework
Transient limitation
Moderate
Looking after/helping others
Permanent limitation
Low
Looking after/helping others
Transient limitation
Low
Attending preschool
Permanent limitation
Severe
Attending mainstream school
Permanent limitation
Moderate
Attending mainstream school
Transient limitation
Severe
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Attending school in an adapted mainstream/special environment
Transient limitation
Moderate
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Transient limitation
Low
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Low
Seeking employment
Transient limitation
Low
Performing professional tasks
Permanent limitation
Low
Performing professional tasks
Transient limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Practicing sports
Transient limitation
Moderate
Travelling
Permanent limitation
Low
Travelling
Transient limitation
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
Temperature
Humidity
Sound intensity
Sound quality
Air quality
Source: Dr Michael KNOWLES[Expert]_PCD Foudation[Patient Organisation]
Last update: 02/05/2017

Additional information

Specialised Social Services

Warning

The documents contained in this web 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.