Orphanet: Disability
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ORPHA:93964  Blepharospasm-oromandibular dystonia syndrome

:: 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
Maintaining head position
Permanent limitation
Moderate
Maintaining head position
Transient limitation
Moderate
Interacting with other people
Permanent limitation
Moderate
Frequent
Temporality
Severity
Seeing/watching
Permanent limitation
Moderate
Seeing/watching
Transient limitation
Moderate
Reading
Permanent limitation
Moderate
Writing
Permanent limitation
Moderate
Using communication devices
Permanent limitation
Moderate
Using communication devices
Transient limitation
Moderate
Motor skills
Permanent limitation
Moderate
Motor skills
Transient limitation
Moderate
Changing body position
Permanent limitation
Moderate
Changing body position
Transient limitation
Moderate
Bending
Permanent limitation
Moderate
Bending
Transient limitation
Moderate
Maintaining body position
Permanent limitation
Moderate
Maintaining body position
Transient limitation
Moderate
Walking
Permanent limitation
Moderate
Walking
Transient limitation
Moderate
Walking short distances
Permanent limitation
Moderate
Walking short distances
Transient limitation
Moderate
Walking long distances
Permanent limitation
Moderate
Walking long distances
Transient limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Permanent limitation
Moderate
Performing vigorous activities (climbing, running, jumping, swimming,...)
Transient limitation
Moderate
Moving around
Permanent limitation
Moderate
Moving around
Transient limitation
Moderate
Moving around outside the home
Permanent limitation
Moderate
Moving around outside the home
Transient limitation
Moderate
Moving around using transportation
Permanent limitation
Moderate
Moving around using transportation
Transient limitation
Moderate
Driving
Permanent limitation
Severe
Driving
Transient limitation
Severe
Interpersonal skills
Permanent limitation
Moderate
Interpersonal skills
Transient limitation
Moderate
Engaging in and maintaining intimate relationships
Permanent limitation
Moderate
Engaging in and maintaining intimate relationships
Transient limitation
Moderate
Daily activities
Permanent limitation
Moderate
Daily activities
Transient limitation
Moderate
Cooking/preparing meals
Permanent limitation
Moderate
Cooking/preparing meals
Transient limitation
Moderate
Doing housework
Permanent limitation
Severe
Doing housework
Transient limitation
Severe
Work and economic life
Permanent limitation
Moderate
Work and economic life
Transient limitation
Moderate
Performing professional tasks
Permanent limitation
Moderate
Performing professional tasks
Transient limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Carrying out daily routines
Transient limitation
Moderate
Social life
Permanent limitation
Moderate
Social life
Transient limitation
Moderate
Taking part in community life
Permanent limitation
Moderate
Taking part in community life
Transient limitation
Moderate
Playing with others
Permanent limitation
Moderate
Playing with others
Transient limitation
Moderate
Socializing
Permanent limitation
Moderate
Socializing
Transient limitation
Moderate
Practicing sports
Permanent limitation
Moderate
Practicing sports
Transient limitation
Moderate
Occasional
Temporality
Severity
Reading
Transient limitation
Moderate
Writing
Transient limitation
Moderate
Communicating with others
Permanent limitation
Low
Communicating with others
Transient limitation
Low
Producing nonverbal messages
Permanent limitation
Low
Producing nonverbal messages
Transient limitation
Low
Participating in a conversation
Permanent limitation
Low
Participating in a conversation
Transient limitation
Low
Using objects
Permanent limitation
Low
Using objects
Transient limitation
Low
Self-care
Permanent limitation
Moderate
Self-care
Transient limitation
Moderate
Washing oneself
Permanent limitation
Moderate
Washing oneself
Transient limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Moderate
Caring for body parts (skin, teeth, nails, hair, genitals)
Transient limitation
Moderate
Dressing/undressing
Permanent limitation
Moderate
Dressing/undressing
Transient limitation
Moderate
Eating
Permanent limitation
Moderate
Eating
Transient limitation
Moderate
Drinking
Permanent limitation
Moderate
Drinking
Transient limitation
Moderate
Handling stress, responsabilities, emergencies and ensuring one's safety
Permanent limitation
Low
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Low
Controlling one's own general behaviour
Permanent limitation
Low
Controlling one's own general behaviour
Transient limitation
Low
Moving around within the home
Permanent limitation
Moderate
Moving around within the home
Transient limitation
Moderate
Interacting with other people
Transient limitation
Moderate
Making/keeping friends
Permanent limitation
Low
Making/keeping friends
Transient limitation
Low
Engaging in sexual relationships
Permanent limitation
Low
Engaging in sexual relationships
Transient limitation
Low
Looking after/helping others
Permanent limitation
Low
Looking after/helping others
Transient limitation
Low
Seeking employment
Permanent limitation
Low
Seeking employment
Transient limitation
Low
Travelling
Permanent limitation
Low
Travelling
Transient limitation
Low
Source: Pr Alfredo BERARDELLI[Expert]
Last update: 03/08/2020

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