Orphanet: Disability
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ORPHA:83418  Proximal spinal muscular atrophy type 2

:: 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.

:: The functional consequences listed below are related to the most common situation of the patients receiving optimal standard care and management (specific and/or symptomatic management, prevention and prophylaxis, devices and aids, care and support).
However, some patients may receive a particular management (neonatal screening, new treatment, management applying only in specific situations) enabling a better functioning, that is not described here.

 Loss of an ability
Very frequent
Temporality
Severity
Standing
Permanent limitation
Complete
Transferring oneself
Permanent limitation
Severe
Maintaining head position
Permanent limitation
Severe
Reaching and catching objects
Permanent limitation
Moderate
Lifting and carrying objects
Permanent limitation
Complete
Handling objects (fine hand use)
Permanent limitation
Moderate
Walking short distances
Permanent limitation
Complete
Walking long distances
Permanent limitation
Complete
Washing oneself
Permanent limitation
Severe
Caring for body parts (skin, teeth, nails, hair, genitals)
Permanent limitation
Severe
Moving around outside the home
Permanent limitation
Severe
Using transportation
Permanent limitation
Severe
Driving
Permanent limitation
Severe
Shopping
Permanent limitation
Severe
Cooking/preparing meals
Permanent limitation
Severe
Doing housework
Permanent limitation
Severe
Undertaking a simple task
Permanent limitation
Severe
Undertaking a complex/multiple task
Permanent limitation
Severe
Practicing sports
Permanent limitation
Severe
Travelling
Permanent limitation
Severe
Frequent
Temporality
Severity
Writing messages
Permanent limitation
Severe
Bending
Permanent limitation
Moderate
Dressing/undressing
Permanent limitation
Severe
Eating
Permanent limitation
Severe
Drinking
Permanent limitation
Severe
Looking after/helping others
Permanent limitation
Moderate
Accessing higher education
Permanent limitation
Moderate
Engaging in paid work in a standard environment
Permanent limitation
Severe
Engaging in paid work in a supported/sheltered environment
Permanent limitation
Severe
Seeking employment
Permanent limitation
Severe
Performing professional tasks
Permanent limitation
Moderate
Carrying out daily routines
Permanent limitation
Moderate
Taking part in community life
Permanent limitation
Low
Playing with others
Permanent limitation
Moderate
Socializing
Permanent limitation
Moderate
Participating in the arts and cultural activities
Permanent limitation
Moderate
Occasional
Temporality
Severity
Handling stress, responsabilities, emergencies and ensuring one's safety
Transient limitation
Moderate
Handling emotions and mood
Transient limitation
Low
Moving around within the home
Permanent limitation
Moderate
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
Engaging in and maintaining intimate relationships
Permanent limitation
Low
Engaging in sexual relationships
Permanent limitation
Low
Attending mainstream school
Permanent limitation
Moderate
Handling money/managing one's own budget
Permanent limitation
Low
Carrying out administrative procedures
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.

Food
Temperature
Source: Expert
Last update: 28/08/2019

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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.