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

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.

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

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.

Personalizing Prophylactic Radiotherapy for Hip Heterotopic Ossification: An AMSTAR-2 Compliant Review of Meta-analyses.

BACKGROUND/AIM: Heterotopic ossification (HO) is a common complication following total hip arthroplasty. Various prophylactic treatments have been proposed, including radiotherapy (RT). This review summarizes the evidence from meta-analyses on the efficacy of RT in preventing hip HO. MATERIALS AND METHODS: A literature search was conducted on PubMed. The quality of the meta-analyses was assessed using the AMSTAR-2 tool. RESULTS: Seven meta-analyses were included. One meta-analysis reported a significant reduction in HO occurrence after RT compared to the control group. Comparing RT and non-steroidal anti-inflammatory drugs, one and two meta-analyses showed significantly greater efficacy of RT in preventing severe HO and better outcomes in patients receiving drugs, respectively. Regarding RT settings, the postoperative and preoperative RT were each supported by one meta-analysis. Furthermore, two meta-analyses showed an advantage of multi-fractionated RT over single fraction RT. The overall confidence rate of the meta-analyses was moderate, low, and critically low in one, three, and three meta-analyses, respectively. CONCLUSION: RT is a confirmed prophylactic intervention for HO. However, the precise optimization of timing, dosage, and fractionation requires elucidation. Future research should focus on the development of predictive models through large-scale data collection and advanced analytics to refine individualized treatment strategies and assess RT comparative effectiveness with drugs.

Prophylactic Radiotherapy of Hip Heterotopic Ossification: A Narrative Mini Review.

Evidence on prophylactic radiotherapy (RT) in hip heterotopic ossification (HO) is sparse and conflicting. The aim of this literature review was to collect and summarize the available data on RT efficacy in preventing hip HO. The results of this review show that RT is effective in the prevention of hip HO, albeit with large variability across series. Effective prophylactic RT requires optimal treatment fields and time intervals with surgery. On the contrary, there is no clear evidence on the optimal timing (post-operative versus pre-operative RT). Comparisons between prophylactic RT and use of non-steroidal anti-inflammatory drugs showed conflicting results, although most were in favor of RT. In conclusion, RT is an established prophylactic treatment for hip HO. However, optimal dose, technique and timing remain unclear, as does the usefulness of combining RT with drugs.

Multiple Flaps for Trochanteric Pressure Sore Reconstruction: A Case Series.

Trochanteric pressure sores can be quite difficult to treat, especially in cases of large bone involvement requiring a wide debridement. The residual wound is large and deep, and the reconstruction must ensure a complete fill of all dead spaces, then must be covered with adequate tissue to allow for healing, and reduce the risk of recurrence. We report a case series of spinal cord-injured patients affected by a trochanteric pressure sore. The reconstruction was achieved using a combination of muscle and a cutaneous muscle flap from the thigh. The result was complete healing of the wound with no recurrence at 18 months. In these cases, muscle or musculocutaneous flaps are the better choices because they permit the use of a good volume of viable tissue. In some cases, the flap can be combined to obtain a better result.

The efficacy of functional surgery associated with early intensive rehabilitation therapy in Charcot-Marie-Tooth Type 1A disease.

BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is type 1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the literature is still poor of evidences on this subject. The aim of the study was to describe a treatment protocol based on the integration of functional surgery and early intensive neurorehabilitation in CMT1A disease patients. CASE REPORT: Five patients with CMT1A (2 females, 3 males), 19-57 years, age 36.8±14 years (mean±SD) are described in the paper. Pre - and post-treatment clinical and quantitative evaluation including muscle and balance score, patient questionnaires, and gait analysis was held. Treatment consisted in functional surgery followed (after the removal of the cast) by a three weeks intensive neurorehabilitation treatment during which patients were hospitalized. The post-treatment examination documented an overall improvement of walking and balance, and reduction of pain. A smaller reduction of fatigue and cramps was observed. Gait analysis showed decreased foot-drop, increased ankle power, and increased knee flexion as a compensatory mechanism. Even considering the heterogeneity of patients in CMT disease this clinical series study confirms that functional surgery followed by intense neurorehabilitation might be considered a valid approach to improve patients with CMT1A. CLINICAL REHABILITATION IMPACT: Clinical impact of the study mainly relies on the detailed description of an effective method of evaluation, surgical and rehabilitative treatment of patients with CMT disease. Even taking into account the heterogeneity of CMT patients, this case series study confirms that functional surgery integrated with early intensive neurorehabilitation might be considered a valid approach to improve the performances of patients with CMT1A.