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Review
. 2016 Jan 19:9:7-19.
doi: 10.2147/JMDH.S69979. eCollection 2016.

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

Donald McCorquodale  1 , Evan M Pucillo  1 , Nicholas E Johnson  1
Affiliations
Review

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

Donald McCorquodale et al. J Multidiscip Healthc. .

Abstract

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

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Figures

Figure 1
Figure 1
Flow of multidisciplinary care in diagnosis and management of CMT. Notes: aA simplification of published strategies of genetic testing in CMT as described by Saporta et al and Miller et al. The order of genetic testing (1, 2, 3) is guided by electrodiagnostic findings and inheritance pattern. Please refer to Saporta et al and Miller et al for more detailed recommendations on strategies of cost conscious sequential genetic testing. Abbreviations: CMT, Charcot–Marie–Tooth; dup, duplication; NCS, nerve conduction studies; EMG, electromyography; MDA, Muscular Dystrophy Association; AD, autosomal dominant; AR, autosomal recessive.
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References

    1. Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral Neuropathy. Philadelphia: WB Saunders; 1975. pp. 825–867.
    1. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol. 1968;18(6):603–618. - PubMed
    1. Nicholson G, Myers S. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Neuromolecular Med. 2006;8(1–2):123–130. - PubMed
    1. Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993–2015. - PubMed
    1. Zuchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006;59(2):276–281. - PubMed

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