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Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies
Journal article   Peer reviewed

Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies

Kristin M Conway, Emma Ciafaloni, Dennis Matthews, Chris Westfield, Kathy James, Pangaja Paramsothy and Paul A Romitti
Disability and rehabilitation, Vol.40(15), pp.1773-1780
07/2018
DOI: 10.1080/09638288.2017.1312567
PMCID: PMC5636650
PMID: 28395534

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Abstract

Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine functional health. The infrastructure of the Muscular Dystrophy Surveillance, Tracking, and Research Network was used to identify commonly affected body functions and link selected functions to clinical surveillance data collected through medical record abstraction. Seventy-one (24 second-, 41 third- and 7 fourth-level) body function categories were selected via clinician review and consensus. Of these, 15 of 24 retained second-level categories were linked to data elements from the Muscular Dystrophy Surveillance, Tracking, and Research Network surveillance database. Our findings support continued development of a core set of body functions from the International Classification of Functioning, Disability and Health system that are representative of disease progression in dystrophinopathies and the incorporation of these functions in standardized evaluations of functional health and implementation of individualized rehabilitation care plans. Implications for Rehabilitation Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive disorders that affect the production of dystrophin resulting in compromised muscle function across multiple systems. The severity and progressive nature of dystrophinopathies can have considerable impact on a patient's participation in activities across multiple life domains. Our findings support continued development of an International Classification of Functioning, Disability and Health core set for childhood-onset dystrophinopathies. A standardized dystrophinopathy International Classification of Functioning, Disability and Health documentation form can be used as a screening tool by rehabilitation professionals and for patient goal setting when developing rehabilitation plans. Patient reports of perceived functional health should be incorporated into the rehabilitation plan and therapeutic progress monitored by a standardized form.
Muscular Dystrophy, Duchenne - physiopathology International Classification of Functioning, Disability and Health Humans

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