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ORPHA:261  Emery-Dreifuss muscular dystrophy

:: 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
Standing
Permanent limitation
Moderate
Sitting
Permanent limitation
Moderate
Bending
Permanent limitation
Moderate
Transferring oneself
Permanent limitation
Moderate
Maintaining a standing position
Permanent limitation
Moderate
Maintaining head position
Permanent limitation
Moderate
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Moderate
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Walking long distances
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Washing oneself
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Permanent limitation
Moderate
Moving around within the home
Permanent limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Using transportation
Permanent limitation
Moderate
Driving
Permanent limitation
Moderate
Shopping
Permanent limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Doing housework
Permanent limitation
Moderate
Looking after/helping others
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Moderate
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Moderate
Seeking employment
Permanent limitation
Moderate
Performing professional tasks
Permanent limitation
Moderate
Playing with others
Permanent limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Travelling
Permanent limitation
Moderate
Occasional
Temporality
Severity
Writing
Permanent limitation
Low
Producing messages in sign language
Permanent limitation
Low
Producing nonverbal messages
Permanent limitation
Low
Writing messages
Permanent limitation
Low
Staying asleep
Permanent limitation
Low
Getting good quality sleep
Permanent limitation
Low
Staying awake
Permanent limitation
Low
Participating in the arts and cultural activities
Permanent limitation
Low
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.

Temperature
Humidity
Air quality
Source: Dr Rabah BEN YAOU[Expert]
Last update: 17/07/2018

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