A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease

2020 ◽  
Vol 41 (7) ◽  
pp. 870-880 ◽  
Author(s):  
Glenn B. Pfeffer ◽  
Tyler Gonzalez ◽  
James Brodsky ◽  
John Campbell ◽  
Chris Coetzee ◽  
...  
Keyword(s):  
Consensus Statement ◽  
Sensory Neuropathy ◽  
Comprehensive Approach ◽  
Foot And Ankle ◽  
Clinical Experiences ◽  
Consensus Guidelines ◽  
Level Of Evidence ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Background: Charcot-Marie-Tooth (CMT) disease is a hereditary motor-sensory neuropathy that is often associated with a cavovarus foot deformity. Limited evidence exists for the orthopedic management of these patients. Our goal was to develop consensus guidelines based upon the clinical experiences and practices of an expert group of foot and ankle surgeons. Methods: Thirteen experienced, board-certified orthopedic foot and ankle surgeons and a neurologist specializing in CMT disease convened at a 1-day meeting. The group discussed clinical and surgical considerations based upon existing literature and individual experience. After extensive debate, conclusion statements were deemed “consensus” if 85% of the group were in agreement and “unanimous” if 100% were in support. Conclusions: The group defined consensus terminology, agreed upon standardized templates for history and physical examination, and recommended a comprehensive approach to surgery. Early in the course of the disease, an orthopedic foot and ankle surgeon should be part of the care team. This consensus statement by a team of experienced orthopedic foot and ankle surgeons provides a comprehensive approach to the management of CMT cavovarus deformity. Level of Evidence: Level V, expert opinion.

Foot and Ankle Manifestations of Charcot-Marie-Tooth Disease

Foot & Ankle ◽  
1993 ◽  
Vol 14 (8) ◽  
pp. 476-486 ◽  
Author(s):  
James R. Holmes ◽  
Sigvard T. Hansen
Keyword(s):  
Soft Tissue ◽  
Neurological Dysfunction ◽  
Careful Examination ◽  
Soft Tissue Release ◽  
Tibialis Posterior ◽  
Foot And Ankle ◽  
Tendon Transfers ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

The term Charcot-Marie-Tooth disease represents a spectrum of neurological dysfunction more recently described as hereditary motor-sensory neuropathies. An abnormality of myelination is thought to be responsible for the clinical manifestations. While histological findings have been well described, the exact biochemical basis for this disorder remains unknown. Over one half of patients with Charcot-Marie-Tooth disease manifest foot and ankle problems, including pain, weakness, deformity, and, rarely, paresthesias. Characteristic patterns of neuromuscular weakness have been identified. Bilateral pes cavovarus is the most common pathologic foot deformity seen. The specific components include hindfoot varus, anterior or forefoot cavus, and, often, clawtoes. The etiology of this abnormal foot posture usually results from tibialis posterior overpowering peroneus brevis coupled with peroneus longus overpowering tibialis anterior. Multiple treatment options have been described. Rationale for specific tendon transfers, soft tissue release, osteotomies, and arthrodesis is discussed. Results of surgical intervention are difficult to interpret and compare because of the wide spectrum of both neurological dysfunction and described operative procedures. In the presence of flexible deformity, early soft tissue release and tendon transfers may help prevent or delay more extensive bony procedures. The clinical results of triple arthrodesis in the Charcot-Marie-Tooth disease patient appear to deteriorate with time. Genetic transmission, progression of the neurological dysfunction, flexibility of the deformity, distribution of muscular weakness, and anticipated foot demands vary a great deal within this patient population. Treatment decisions, therefore, must be individualized and based upon a clear history, careful examination, and well-defined patient goals.

Quantitative measurement of duplicated DNA as a diagnostic test for Charcot-Marie-Tooth disease type 1a

1993 ◽  
Vol 39 (9) ◽  
pp. 1845-1849 ◽  
Author(s):  
G W Hensels ◽  
E A Janssen ◽  
J E Hoogendijk ◽  
L J Valentijn ◽  
F Baas ◽  
...  
Keyword(s):  
Preliminary Investigation ◽  
Sensory Neuropathy ◽  
Disease Type ◽  
Chromosome 17 ◽  
Hereditary Neuropathy ◽  
Chromosomal Dna ◽  
Gene Encoding ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Abstract Charcot-Marie-Tooth disease type 1 (CMT1) is a hereditary motor and sensory neuropathy. The autosomal dominant subtype is often linked with a large duplication on chromosome 17p11.2. The gene encoding the peripheral myelin protein PMP 22 (the critical gene in this subtype of CMT1) is located within this duplication. To detect this duplication in chromosomal DNA from individuals thought to have CMT1, we compared the hybridization signals of two DNA probes within this duplication (VAW412R3a and VAW409R3a) with the signal of a reference probe (E3.9). When duplication was present, the signals from the first two probes increased from 100% (for nonduplicated samples) to 145% and 142%, respectively. The day-to-day variance was 3.7% and 5.1%, respectively. We demonstrated this DNA duplication in 49 of 95 DNA samples from unrelated individuals thought to have CMT1. Moreover, because hereditary neuropathy with liability to pressure palsies (HNPP) is based on a DNA deletion in the same area of chromosome 17, this quantitative test may be useful in establishing the presence of HNPP. In a preliminary investigation, four unrelated patients with HNPP yielded test values of 63% and 54%, respectively, of those for nonduplicated samples (CV 19% and 18%, respectively; n = 4), suggesting a deletion in 17p11.2.

Diaphragmatic Dysfunction in Siblings with Hereditary Motor and Sensory Neuropathy (Charcot-Marie-Tooth Disease)

CHEST Journal ◽  
1987 ◽  
Vol 91 (4) ◽  
pp. 567-570 ◽  
Author(s):  
Charles K. Chan ◽  
Vahid Mohsenin ◽  
Jacob Loke ◽  
Jim Virgulto ◽  
M. Leonide Sipski ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Diaphragmatic Dysfunction ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Motor And Sensory Neuropathy

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot-Marie-Tooth disease type 1a)

Neurology ◽  
1993 ◽  
Vol 43 (5) ◽  
pp. 1010-1010 ◽  
Author(s):  
J. E. Hoogendijk ◽  
E.A.M. Janssen ◽  
A. A.W.M. Gabreels-Festen ◽  
G. W. Hensels ◽  
E. M.G. Joosten ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Disease Type ◽  
Allelic Heterogeneity ◽  
Charcot Marie Tooth ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease ◽  
Motor And Sensory Neuropathy
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