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

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.

SUBMITTER: McCorquodale D

PROVIDER: S-EPMC4725690 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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

McCorquodale Donald D Pucillo Evan M EM Johnson Nicholas E NE

Journal of multidisciplinary healthcare 20160119

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 ...[more]

PMID: 26855581

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Project description:BackgroundCavovarus foot deformity is common in patients with Charcot-Marie-Tooth disease. Multiple surgical reconstructive procedures have been described, but few authors have reported long-term results. The purpose of this study was to evaluate the long-term results of an algorithmic approach to reconstruction for the treatment of a cavovarus foot in these patients.MethodsWe evaluated twenty-five consecutive patients with Charcot-Marie-Tooth disease and cavovarus foot deformity (forty-one feet) who had undergone, between 1970 and 1994, a reconstruction consisting of dorsiflexion osteotomy of the first metatarsal, transfer of the peroneus longus to the peroneus brevis, plantar fascia release, transfer of the extensor hallucis longus to the neck of the first metatarsal, and in selected cases transfer of the tibialis anterior tendon to the lateral cuneiform. Each patient completed standardized outcome questionnaires (the Short Form-36 [SF-36] and Foot Function Index [FFI]). Radiographs were evaluated to assess alignment and degenerative arthritis, and gait analysis was performed. The mean age at the time of follow-up was 41.5 years, and the mean duration of follow-up was 26.1 years.ResultsCorrection of the cavus deformity was well maintained, although most patients had some recurrence of hindfoot varus as seen on radiographic examination. The patients had a lower mean SF-36 physical component score than age-matched norms, and the women had a lower mean SF-36 physical component score than the men, although this difference was not significant. Smokers had lower mean SF-36 scores and significantly higher mean FFI pain, disability, and activity limitation subscores (p < 0.0001). Seven patients (eight feet) underwent a total of eleven subsequent foot or ankle operations, but no patient required a triple arthrodesis. Moderate-to-severe osteoarthritis was observed in eleven feet. With the numbers studied, the age at surgery, age at the time of follow-up, and body mass index were not noted to have a significant correlation with the SF-36 or FFI scores.ConclusionsUse of the described soft-tissue procedures and first metatarsal osteotomy to correct cavovarus foot deformity results in lower rates of degenerative changes and reoperations as compared with those reported at the time of long-term follow-up of patients treated with triple arthrodesis.

Dataset Information

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

Publications

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

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