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Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach

Authors McCorquodale D, Pucillo E, Johnson N

Received 2 August 2015

Accepted for publication 14 November 2015

Published 19 January 2016 Volume 2016:9 Pages 7—19


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr Scott Fraser

Donald McCorquodale, Evan M Pucillo, Nicholas E Johnson

Department of Neurology, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, UT, USA

Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. In this review, we discuss several important trends in CMT research factors that will require a collaborative multidisciplinary approach. These include the development of large multicenter patient registries, standardized clinical instruments to assess disease progression and disability, and increasing recognition and use of patient-reported outcome measures. These developments will continue to guide strategies in long-term multidisciplinary efforts to maintain quality of life and preserve functionality in CMT patients.

Keywords: rehabilitation, genetic diagnosis, patient quality of life, inherited neuropathies, hereditary motor and sensory neuropathies, longitudinal care

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