Knowledge on rare diseases and orphan drugs

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Orphanet provides information on activity limitation/participation restriction (functional consequences) described in rare diseases, using 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 organised by their frequency in the patients’ population.

Enter your requested disease name to find information on activity limitations/participation restrictions for the selected disease.

Each functional consequence is recorded by:

its frequency in the patients' population:

• - very frequent: more than 80%
• - frequent: between 30% and 80%
• - occasional: fewer than 30%

its temporality:

• - permanent limitation/restriction: the functional consequence is present throughout the life of the patient. It can be congenital, secondary to loss of a skill or a participation. It can be a direct or indirect consequence of the disease or of its treatment.
• - transient limitation/restriction : the functional consequence occurs during acute episodes, periodic crises or relapses. It resolves or reduces spontaneously or by the action of a treatment or care.
• - delayed acquisition: a skill or a participation is performed later than by a healthy person.

the degree of its severity:

• - low: Activity or participation can be carried out with little difficulty by the patient alone.
• - moderate: Activity or participation can be carried out with some technical and/or human assistance
• - severe: Activity or participation cannot be carried out without substantial technical and/or human assistance.
• - complete: Activity or participation cannot be carried out, even with technical and/or human assistance.
• - Unspecified: Limitation/restriction is difficult to quantify or highly variable between patients (ranging from 'Low' to 'Complete')

the loss of ability when relevant, defined by the progressive and definitive loss of a skill or participation over the course of the disease.

A functional limitation is mentioned as « undefined » when the current knowledge does not enable to provide information about the extent of the consequences on daily life.

The unaffected activities and participation are not listed.

Some environmental factors requiring particular attention to moderate the patient’s disability(ies) are also listed.