Orphanet: Disability
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ORPHA:83419  Proximal spinal muscular atrophy type 3

:: 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
Occasional
Temporality
Severity
Learning to write
Permanent limitation
Low
Learning to write
Acquisition delay
Low
Speaking
Permanent limitation
Low
Maintaining head position
Permanent limitation
Low
Staying asleep
Permanent limitation
Low
Getting good quality sleep
Permanent limitation
Low
Interacting with other people
Permanent limitation
Low
Making/keeping friends
Permanent limitation
Low
Maintaining family relationships
Permanent limitation
Low
Dealing with strangers
Permanent limitation
Low
Attending preschool
Permanent limitation
Low
Carrying out administrative procedures
Permanent limitation
Low
Undertaking a simple task
Permanent limitation
Low
Not defined
Writing
Producing messages in sign language
Producing nonverbal messages
Writing messages
Using communication devices
Standing
Sitting
Bending
Transferring oneself
Maintaining a standing position
Reaching and catching objects
Lifting and carrying objects
Handling objects (fine hand use)
Walking short distances
Walking long distances
Performing vigorous activities (climbing, running, jumping, swimming,...)
Washing oneself
Caring for body parts (skin, teeth, nails, hair, genitals)
Regulating urination
Regulating defecation
Dressing/undressing
Eating
Drinking
Managing one's health (diet, medications, prevention, needs, assistance, monitoring)
Moving around within the home
Moving around outside the home
Using transportation
Driving
Engaging in and maintaining intimate relationships
Engaging in sexual relationships
Shopping
Cooking/preparing meals
Doing housework
Looking after/helping others
Attending mainstream school
Learning a profession (vocational training/apprenticeship) in the standard environment
Accessing higher education
Engaging in paid work in a standard environment
Seeking employment
Performing professional tasks
Undertaking a complex/multiple task
Carrying out daily routines
Taking part in community life
Playing with others
Socializing
Practicing sports
Participating in the arts and cultural activities
Travelling
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
Seasonal cycles
Air quality
Source: [Expert]
Last update: 25/11/2019

Additional information

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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.