Prevalence and orthopedic management of foot and ankle deformities in Charcot–Marie–Tooth disease

Abstract

Introduction: Foot deformities are frequent complications in Charcot–Marie–Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. Methods: In this study we assessed the frequency of foot deformities and surgery among patients recruited into the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable. Results: Foot deformities were reported in 71% of CMT patients; 30% of the patients had surgery. Survey questions were answered by 16 surgeons working in different specialized centers. Most of the respondents were foot and ankle surgeons. There was marked variation in surgical management. Discussion: Our findings confirm that the approaches to orthopedic management of CMT are varied. We identify areas that require further research. Muscle Nerve 57: 255–259, 2018

Inherited Neuropathies

“…35 Individuals with CMT1A exhibit the classical CMT phenotype, as previously described. Pronounced weakness of the muscles in the anterior lower leg compartment, which leads to the development of foot drop and pes cavus deformity, 36 along with weakness and wasting of intrinsic hand muscles, is a typical phenotype. 10 Although typically symmetric, 20% of patients exhibit a minor degree of asymmetry.…”

“…71,72 However, considerable variation in the approach to surgical management occurs, and to date there are no guidelines for the optimal surgical management of foot deformities. 36,72 While no disease-modifying treatments of CMT are currently available, determination of genetic subtype remains important for prognostication, genetic counseling, targeted management, and stratification for upcoming clinical trials. Genetic counseling with appropriate antenatal testing and preimplantation genetic diagnosis may be performed to prevent vertical transmission.…”

The Role of Orthotic Service in Modern Rehabilitation of Patients with Charcot-Marie-Tooth Disease

“…Among patients with CMT disease, according to Wicart P, 80% have pes cavus deformity [10]. According to Laura M et al, foot deformities were diagnosed in 71% of CMT patients; 30% of the patients had surgery invention [11].…”

Interação dos fatores musculoesqueléticos com o equilíbrio de crianças e adolescentes com neuropatia sensorial e motora hereditária

“…A Figura 1 sumariza os principais subtipos de CMT e respectivos genes envolvidos (retangulos vermelhos), agrupando-os nas formas desmielinizante e axonal MARCHESI, 2009), com a representação esquemática das sobreposições entre os diferentes tipos de CMT (áreas de intersecção). (KUNOVSKY et al, 2017;LAURÁ et al, 2017;VIDELER et al, 2002).…”

“…Nas suas formas mais frequentes (CMT1A e CMT1X), é uma condição patológica incapacitante, com curso evolutivo lento, desenvolvendo-se ao longo duas primeiras décadas de vida e que não apresenta tratamento curativo até o presente momento. No quadro clínico já instalado, encontram-se hiporreflexia, fraquezas musculares e perdas sensoriais distais associadas às deformidades em pés do tipo cavovaro (BURNS et al, 2013;LAURÁ et al, 2018;REILLY et al, 2011) que em tese, podem estar envolvidas em maior ou menor grau com controle postural deficitário presente neste grupo de doentes.…”