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

Pfeffer, Glenn B.; Gonzalez, Tyler; Brodsky, James W.; Campbell, John T.; Coetzee, J. N.; Conti, Stephen F.; Guyton, G. P.; Herrmann, David N.; Hunt, Kenneth J.; Johnson, Jeffrey E.; McGarvey, William C.; Pinzur, Michael S.; Raikin, Steve; Sangeorzan, Bruce J.; Younger, Alastair; Michalski, Max; An, Tonya; Noori, Naudereh

doi:10.1177/1071100720922220

Cited by 35 publications

(52 citation statements)

References 34 publications

(33 reference statements)

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“…The majority of patients were male (18/25, 72%) and had CMT1A due to chromosome 17 duplication (17/25, 68%). The mean CMTES v2 was 11 (SD 4.5) (range [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19].…”

Section: Resultsmentioning

confidence: 99%

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A prospective study on surgical management of foot deformities in Charcot Marie tooth disease

Ramdharry

Singh

Gray

et al. 2021

J Peripheral Nervous Sys

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Foot deformities are frequently observed in patients with Charcot Marie tooth disease (CMT) and orthopaedic surgery is often required. Currently there is no evidence-based guideline on surgical management and only a few studies which have evaluated long-term outcomes of surgical procedures. The aim of the study was to evaluate longitudinally the effect of foot surgery in a cohort of CMT patients.Twenty-five CMT adult patients were assessed using a comprehensive group of validated scales and questionnaires before and after surgery. A wide range of surgical procedures was performed by one team of dedicated foot ankle orthopaedic surgeons. Foot alignment as measured by the foot posture index, pain, quality of life and callosities significantly improved after one year and the improvement was maintained up to 4 years after surgery. There was a trend towards a reduction in the number of falls post-operatively. Surgery had no effect on fatigue, balance and CMT examination score. Our findings showed significant improvement of pain, foot alignment, callosities and quality of life after surgery and suggested that foot deformity correction in adults with CMT performed in a specialised foot and ankle unit is beneficial.

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Section: Resultsmentioning

confidence: 99%

“…More recently, a consensus on the surgical management of cavovarus foot in CMT patients was reached by a large group of American foot and ankle surgeons. 11 The aim of this study was to evaluate longitudinally the effect of foot surgery in a cohort of CMT patients.…”

Section: Introductionmentioning

confidence: 99%

A prospective study on surgical management of foot deformities in Charcot Marie tooth disease

Ramdharry

Singh

Gray

et al. 2021

J Peripheral Nervous Sys

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“…19,30 Surgeons recommend early interventions to guarantee a proper and balanced strengthening of the foot-leg region. 25,28,29,31 However, before surgery it is important to inform patients about potential relapses. Since FS strives to preserve foot flexibility, the results could be undermined due to progressive characteristics of the underlying neurological condition and to joint structural changes.…”

Section: Discussionmentioning

confidence: 99%

“…Healthcare professionals should know that patient engagement represents a very sensitive moment. 31 During the initial examination, the medical staff welcomes any requests and personal expectations brought forth by patients, carefully evaluating all functional clinical cues, and eventually formulating a potential scenario for a surgical and postsurgical tailored program that has to be thoroughly discussed with the patient. From recent literature we know that informing and engaging a subject can be a way to make them an integral part of their healing process, therefore, improving their satisfaction level following surgery.…”

Section: Discussionmentioning

confidence: 99%

Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot‐Marie‐Tooth disease: A retrospective study

Carantini¹,

Merlo²,

Esposito³

et al. 2020

J Peripheral Nervous Sys

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Structural foot deformities consequent to Charcot Marie Tooth (CMT) can be treated by functional surgery (FS). This study aims to evaluate both long‐term walking ability and patients' satisfaction in CMT subjects who underwent FS during their lifetime. We conducted a retrospective observational study. Age, sex, CMT type, comprehensive surgical history, current walking ability assessed by the Walking Handicap Scale (WHS) and patients' global impression of change (pGIC) were retrieved from a custom database managed at our institution. WHS and pGIC were assessed between mid‐2018 and mid‐2019. Data from 79 patients were screened and 63 were included, 35W‐28M, mean age 42 (15), with demyelinating (75%), axonal (20%), and other types (5%) of CMT, who underwent FS between 1967 and 2018. FS evolved significantly over the years from bone‐related procedures (e.g., arthrodesis) to both bone and soft tissues‐related procedures. The re‐intervention rate decreased from 70% before 2000 to 32% in the last decade. Complications arose in five cases. FS was mainly performed on adults (73%). WHS was ≥ 5 in three‐quarters of the sample (range 1‐6) and was significantly affected by age groups in patients with demyelinating CMT (n=47, p<0.01, non‐parametric ANOVA). Nearly 80% of patients were satisfied with FS (pGIC ≥ 4). In conclusion, CMT subjects who underwent FS surgery maintained a high gait efficiency in the long‐term period, with middle to high levels of satisfaction in the majority of the cases. This confirms the validity of FS in the management of acquired foot deformities in CMT patients.

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“…A survey on current practice revealed that there were differences in the approaches between different centres and countries [ 37 ]. During the last few years, commendable efforts have been devoted to compare experiences and reach consensus on which procedures should be done and which should be avoided [ 38 , 39 ]. Surgery, if indicated ideally after multidisciplinary evaluation and in the hands of an orthopaedic surgeon with expertise in CMT, should occur early, as fixed deformities are more difficult to treat, in an individualised manner and according to determined sequences of procedures.…”

Section: Current Managementmentioning

confidence: 99%

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

2021

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There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment of pain; fatigue and cramps are frequent complaints that are difficult to treat. The challenge is to find disease-modifying therapies. Several approaches, including gene silencing, to counteract the PMP22 gene overexpression in the most frequent CMT1A type are under investigation. PXT3003 is the compound in the most advanced phase for CMT1A, as a second-phase III trial is ongoing. Gene therapy to substitute defective genes or insert novel ones and compounds acting on pathways important for different CMT types are being developed and tested in animal models. Modulation of the Neuregulin pathway determining myelin thickness is promising for both hypo-demyelinating and hypermyelinating neuropathies; intervention on Unfolded Protein Response seems effective for rescuing misfolded myelin proteins such as P0 in CMT1B. HDAC6 inhibitors improved axonal transport and ameliorated phenotypes in different CMT models. Other potential therapeutic strategies include targeting macrophages, lipid metabolism, and Nav1.8 sodium channel in demyelinating CMT and the P2X7 receptor, which regulates calcium influx into Schwann cells, in CMT1A. Further approaches are aimed at correcting metabolic abnormalities, including the accumulation of sorbitol caused by biallelic mutations in the sorbitol dehydrogenase (SORD) gene and of neurotoxic glycosphingolipids in HSN1.

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

Cited by 35 publications

References 34 publications

A prospective study on surgical management of foot deformities in Charcot Marie tooth disease

A prospective study on surgical management of foot deformities in Charcot Marie tooth disease

Long‐term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot‐Marie‐Tooth disease: A retrospective study

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

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