x

Search for a disease and its functional consequences

* (*) mandatory field

ORPHA:75840  Congenital muscular dystrophy, Ullrich type

:: 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
Frequent
Temporality
Severity
Standing
Permanent limitation
Moderate
Standing
Acquisition delay
Moderate
Sitting
Permanent limitation
Moderate
Sitting
Acquisition delay
Moderate
Bending
Permanent limitation
Moderate
Bending
Acquisition delay
Moderate
Transferring oneself
Permanent limitation
Moderate
Transferring oneself
Acquisition delay
Moderate
Maintaining a standing position
Permanent limitation
Moderate
Maintaining a standing position
Acquisition delay
Moderate
Maintaining head position
Permanent limitation
Moderate
Maintaining head position
Acquisition delay
Moderate
Reaching and catching objects
Permanent limitation
Moderate
Reaching and catching objects
Acquisition delay
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Lifting and carrying objects
Acquisition delay
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Handling objects (fine hand use)
Acquisition delay
Moderate
Walking short distances
Permanent limitation
Moderate
Walking short distances
Acquisition delay
Moderate
Walking long distances
Permanent limitation
Moderate
Walking long distances
Acquisition delay
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Acquisition delay
Moderate
Moving around within the home
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Low
Moving around outside the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Low
Using transportation
Permanent limitation
Moderate
Using transportation
Permanent limitation
Low
Driving
Permanent limitation
Moderate
Driving
Permanent limitation
Low
Occasional
Temporality
Severity
Washing oneself
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Low
Washing oneself
Acquisition delay
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)
Permanent limitation
Low
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Acquisition delay
Low
Regulating urination
Permanent limitation
Moderate
Regulating urination
Permanent limitation
Low
Regulating urination
Acquisition delay
Moderate
Regulating urination
Acquisition delay
Low
Regulating defecation
Permanent limitation
Moderate
Regulating defecation
Permanent limitation
Low
Regulating defecation
Acquisition delay
Moderate
Regulating defecation
Acquisition delay
Low
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Low
Dressing/undressing
Acquisition delay
Moderate
Dressing/undressing
Acquisition delay
Low
Eating
Permanent limitation
Moderate
Eating
Permanent limitation
Low
Eating
Acquisition delay
Moderate
Eating
Acquisition delay
Low
Drinking
Permanent limitation
Moderate
Drinking
Permanent limitation
Low
Drinking
Acquisition delay
Moderate
Drinking
Acquisition delay
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Low
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Acquisition delay
Low
Attending preschool
Permanent limitation
Moderate
Attending preschool
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Moderate
Attending mainstream school
Permanent limitation
Low
Attending school in an adapted mainstream/special environment
Permanent limitation
Moderate
Attending school in an adapted mainstream/special environment
Permanent limitation
Low
Learning a profession (vocational training/apprenticeship) in the standard environment
Permanent 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
Moderate
Learning a profession (vocational training/apprenticeship) in an adapted mainstream/special environment
Permanent limitation
Low
Accessing higher education
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Low
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Low
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Low
Seeking employment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Low
Performing professional tasks
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Low
Handling money/managing one's own budget
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Low
Carrying out administrative procedures
Permanent limitation
Moderate
Carrying out administrative procedures
Permanent limitation
Low
Not defined
Undertaking a simple task
Undertaking a complex/multiple task
Carrying out daily routines
Taking part in community life
Playing with others
Socializing
Practicing sports
Travelling
Source: Expert
Last update: 03/12/2018

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.