Scapulothoracic Fusion Using Multiple Suture Tape Cerclage.

ABSTRACT: Scapulothoracic arthrodesis has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy. It was introduced to improve shoulder function. Several methods of fixation have been proposed to obtain the union of the scapula to the ribs. These include plates, screws, cables, or wires with or without bone grafting. The purpose of this manuscript is to describe the surgical technique of scapulothoracic arthrodesis using plate and cerclage suture tapes. LEVEL OF EVIDENCE: Level IV, treatment study (case series).

Outcomes of scapulothoracic fusion in patients with facioscapulohumeral dystrophy: a comparison of allograft versus autograft bone grafting.

BACKGROUND: Scapulothoracic (ST) fusion for facioscapulohumeral muscular dystrophy (FSHD) is an established treatment that corrects scapular instability, although it has high reported complication rates. The purpose of our study was to characterize the outcomes of ST fusion for FSHD in a large patient cohort and compare the outcomes based on bone graft type and fixation technique. Our hypothesis was that union rates would not differ by bone graft type during ST fusion. METHODS: A retrospective chart review was undertaken to identify patients who underwent ST fusion at multiple institutions performed by a single surgeon between 2013 and 2019 with minimum 2-year follow-up. Patient demographic characteristics, surgical technique, time to union, complications, and clinical outcomes including patient-reported outcome measures were recorded. Univariate and multivariate statistical analyses including regression analyses were performed to compare preoperative and postoperative outcomes. RESULTS: A total of 50 patients with 54 ST fusions (bilateral in 4 patients) and an average follow-up period of 5.8 years (standard deviation, 1.6 years) were included for analysis. Active forward elevation (77° vs. 124°, P < .00001) and abduction (60° vs. 90°, P < .00001) both improved significantly after fusion. Average internal rotation after fusion was at spinal level L3-L4. The visual analog scale pain score (2.6 vs. 1.2, P < .00001), Subjective Shoulder Value score (33 vs. 76, P < .00001), and American Shoulder and Elbow Surgeons (ASES) score (41.8 vs. 76.1, P < .00001) all improved significantly postoperatively. Of the shoulders, 50% (27 of 54) received treatment with cerclage wires and 50% (27 of 54) received treatment with Luque wires. Femoral head allograft was used in 53.7% of shoulders (29 of 54), whereas iliac crest autograft was used in 46.3% (25 of 54). Average radiographic time to healing was 11.1 weeks (standard deviation, 3.2 weeks), with no incidence of nonunion, and did not significantly differ by bone graft type (P = .26) or technique (P = .20). The complication rate was 24.1%, including seroma (n = 3), superficial infection (n = 2), transient neurologic injury (n = 2), hemothorax (n = 1), rib fracture (n = 1), pneumothorax (n = 1), and shortness of breath (n = 1), although none requiring reoperation. There was no significant difference in the rate of postoperative complications when compared by surgical technique (P = .81) and bone graft type (P = .93). There were no independently predictive factors influencing the rate of postoperative complications by multivariate regression. Regression analysis showed that the postoperative ASES score was independently associated with the preoperative ASES score (P < .0001), use of iliac crest autograft (P < .011), and presence of complications (P < .043). CONCLUSION: Patients receiving ST fusion for FSHD demonstrate globally improved active motion and patient-reported outcome measures. Fusion construct or type of bone graft does not affect time to union or complication rates. Surgeons should be aware of a relatively high complication rate in the early postoperative period.

Management of spine deformity secondary to facioscapulohumeral dystrophy in pediatric patients. A case description and a literature review.

PURPOSE: The aim of this report is to describe the management of a severe spinal deformity in an adolescent with facioscapulohumeral dystrophy (FSHD) and review the available literature on the topic. METHODS: A 14-year-old patient with a genetically confirmed diagnosis of FSHD was evaluated for right thoracolumbar scoliosis (TL) and severe lumbar hyperlordosis. Spinal radiographs showed a right-sided curve of 32° and in the sagittal plane a lordotic curve T10-S1 -143°, TL junction -51.6°, LL -115°, pelvic incidence (PI) 25.5°, pelvic tilt 63.3°, PI-LL mismatch -90°, and a sagittal imbalance of -146 mm. An MRI scan evidenced atrophy of the paraspinal muscles. An instrumental gait analysis revealed significant pelvic anteversion associated with hip flexion and mild equinus. During follow-up, the patient developed a progressive inability to walk and difficulty sitting along with respiratory compromise and pain. RESULTS: At the age of 16 years, a posterior T2-iliac spinal fusion was performed using pedicle screws and four iliac anchors, with a 4-rod system placed at the lumbopelvic level. Significant correction of the hyperlordosis, the PI-LL mismatch, and sagittal imbalance was achieved, and the patient improved her sitting capacity, quality of life (QoL) and self-esteem and reported a decreased perception of disability at 2-year follow-up. CONCLUSIONS: This is the first published case of spinal deformity secondary to FSHD to use gait analysis to supplement the decision of optimal timing for surgery, and the second published case of spine surgery in a pediatric patient. Although spinal fusion surgery is controversial in ambulatory FSHD patients with extensive deformity, when ambulation is impaired, surgery improves function, prevents progression, and restores sagittal balance, increasing patient's QoL.

ScapuloThoracic Arthrodesis for Facio-Scapulo-Humeral Dystrophy: Outcomes at mean 7.3 years [3.5-13] follow-up. CT measurement of the fixation position of the arthrodesis and radioclinical correlations.

INTRODUCTION: Scapulothoracic arthrodesis may be proposed to patients having facio-scapulohumeral dystrophy to achieve gains in shoulder motion and pain relief. This study aimed to assess shoulder motion, pain and functional scores at last follow-up and to present a method of computed tomography measurements of the position of the scapulothoracic arthrodesis and study their correlations with shoulder motion. PATIENTS AND METHODS: Seven patients (11 arthrodesis) were included. Shoulder motion, pain, respiratory function and deltoid strength were compared with preoperative values and Constant, Brooke and Vignos scores were assessed at last follow-up. The elevation/depression and upward/downward position of the scapula were measured by performing postoperative 3D CT reconstruction. The protraction/retraction position was measured with 2D CT reconstructions on axial view. Correlations between these measurements and shoulder flexion and abduction were analysed. All complications were searched. RESULTS: We found a significant improvement in mean VAS (from 3±2 to 1±1, p=0,008) shoulder flexion (64°± 11 to 113°±20, p=0,003) and abduction (from 63°±9 to 92°±13°, p=0,004). Postoperative external rotation wasn't significantly different (from 49°±19 to 43°±10, p=0,112) and on internal rotation, the hand reached on average the 9th thoracic vertebra (S1-T2). Scapulothoracic arthrodesis was mainly positioned in regard to the 1st and the 6th rib. The mean protraction/retraction position was 38,5°±8° and the mean scapular upward/downward rotation position was 92°±15°. No correlations were found between the scapular position and shoulder flexion and abduction. CONCLUSIONS: Scapulothoracic arthrodesis for facioscapulohumeral dystrophy improved pain, shoulder flexion and abduction and provided good functional outcomes at 3,5 to 13 years of follow up. A method of CT assessment of the position of the arthrodesis is presented to analyse precisely the position of the scapula but no correlations with shoulder motions were found. Preoperative evaluation of deltoid function and scapular winging seemed to be the most important predictors of shoulder motions gains after this procedure. LEVEL OF EVIDENCE: III, Retrospective cohort study.

Bilateral Scapulothoracic Fusions Fixed with High-Strength Suture Tapes for Facioscapulohumeral Dystrophy: A Case Report.

CASE: A 32-year-old male right-hand dominant school-bus driver with facioscapulohumeral dystrophy (FSHD) was referred to an upper limb specialist for consideration for scapulothoracic fusion (STF) because of limited upper limb function and cosmetic issues. Staged bilateral STFs were performed with seven high-strength suture tapes tensioned to secure a standard tubular plate in situ. CONCLUSION: STF may be a desirable treatment option for patients with FSHD. The use of high-strength suture tapes in cases of STF allows for secure fixation of the scapulothoracic joint. This potentially confers a reduction in operative time while ensuring adequate tensioned fixation and minimizing the risk of iatrogenic pneumothorax.

A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy.

BACKGROUND: Scapulothoracic arthrodesis (STA) is a well-established surgical technique to provide scapular stabilisation in patients with facioscapulohumeral dystrophy (FSHD). There is no staging or scoring systems available to guide surgical decision. The aim of this study was to develop a staging system to evaluate the shoulder disability in patients with FSHD to guide surgical decision-making and assess its reliability among surgeons. METHODS: Fifty-seven shoulders of 29 patients (15 male, 14 female) with an average age of 34.5 years (13-73) were included. Six stages of the disease were defined to create a system consisting of shoulder elevation, deltoid function and scapular winging. Patients were assessed by two independent orthopaedic surgeons who were blind to each other. Statistical analyses included mean and standard deviation for descriptive variables, Pearson's correlation and Cohen's Kappa for inter- and intraobserver agreement. RESULTS: Measurement of elevation showed excellent correlation in both inter- and intraobserver assessment. There was substantial agreement on deltoid function and moderate agreement on scapular winging. Decisions on stage showed excellent agreement on interobserver and substantial agreement on intraobserver assessment. Surgical decision using the stage showed excellent agreement on both inter- and intraobserver assessment. CONCLUSION: This novel staging system has an excellent inter observer agreement on FSHD patients' shoulder disability. This would provide surgeons a beneficial tool to define patient groups that would have negatively or positively affected from STA.

Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences.

BACKGROUND: Scapulothoracic arthrodesis (STA) has been proposed for the treatment of painful scapular winging in patients with facioscapulohumeral muscular dystrophy (FSHD). However, the rate of osseous fusion is variable, and there is a theoretical risk of reduced respiratory function after bilateral STA. METHODS: This was a retrospective study of 10 STAs, performed sequentially, in 5 FSHD patients. The surgical technique involved use of a semitubular plate and wire construct with autograft (iliac crest) interposed between the scapula and rib cage. Osseous fusion, respiratory function, and shoulder function were evaluated. The mean follow-up period was 141 ± 67 months (range, 24-225 months). RESULTS: Early complications included 1 pneumothorax and 1 pleural effusion. No late complications occurred, and no patients underwent reoperation. On postoperative computed tomography images, complete bony union of the scapula to the ribs was observed in 90% of shoulders (9 of 10). Comparison of preoperative and postoperative pulmonary function test results showed no significant difference in vital capacity (from 87% ± 14% to 85% ± 12%) and forced vital capacity (from 86% ± 16% to 77% ± 15%). Patients gained on average 40° of active forward elevation (from 62° ± 20° to 102° ± 4°) and 22° of abduction (from 58° ± 21° to 89° ± 7°) (P < .001). The mean Subjective Shoulder Value increased from 25% ± 8% to 72% ± 18% (P < .001). All patients were pleased with the results and would recommend the procedure to other persons. CONCLUSION: In patients with FSHD, bilateral STA provides satisfactory shoulder function with a high rate of scapulothoracic fusion and few or no significant respiratory repercussions.

Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy.

BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant myopathy characterized by facial and shoulder girdle muscle weakness with scapular winging. Scapulothoracic arthrodesis is a successful treatment approach for patients with <90° of shoulder elevation. The purpose of the present study was to assess functional outcomes and complications following scapulothoracic arthrodesis in patients with FSHD. METHODS: We retrospectively reviewed the records of 40 patients (64 shoulders) in whom scapulothoracic arthrodesis was performed. To achieve fusion, multiple multifilament cables were used together with autologous bone and allograft bone. Preoperative and postoperative shoulder elevation and abduction; Disabilities of the Arm, Shoulder and Hand (Quick version, qDASH) scores; and pulmonary function were compared. Recorded complications were classified as pulmonary or scapular. RESULTS: The mean age of the patients at the time of the operation was 25.4 years (range, 15 to 60 years), and the mean duration of follow-up was 71.2 months (range, 12 to 185 months). When the preoperative values were compared with those at the latest follow-up, significant improvement was noted in terms of elevation (from a mean [and standard deviation] of 60.6° ± 17.2° to 123.7° ± 26.7°; p < 0.001), abduction (from 52.7° ± 15.8° to 98.8° ± 20.3°; p < 0.001), and qDASH scores (from 34.7 ± 11.4 to 13.3 ± 13.1; p < 0.001). The overall complication rate was 26.6%. There were 7 pulmonary complications (4 pneumothoraxes, 2 pleural effusions, and 1 major atelectasis), and 5 chest tube placements were required. Ten complications (including 3 rib fractures, 1 brachial plexus palsy, 2 cases of implant irritation, 2 nonunions, 1 delayed union, and 1 scapular fracture) were related to the scapular fixation, and 7 revision procedures were required. Scapulothoracic fusion was achieved in all patients but 1, who had a scapular fracture. Pulmonary function tests were performed for 19 patients, and no difference was observed between preoperative and postoperative results. CONCLUSIONS: Scapulothoracic arthrodesis with use of multifilament cables is a successful surgical technique with high fusion rates and low morbidity. Pulmonary complications are common but resolve with careful attention. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

A multidisciplinary clinical approach to facioscapulohumeral muscular dystrophy.

BACKGROUND AND PURPOSE: Impaired shoulder function is the most disabling problem for daily life of Fascioscapulohumeral muscular dystrophy (FSHD) patients. Scapulothoracic arthrodesis can give a high impact to the functionality of patients. Here we report our experience with scapulothoracic arthrodesis and spinal stenosis surgery in FSHD patients. METHODS: 32 FSHD patients were collected between 2015-2016. Demographical and clinical features were documented. All the patients were neurologically examined. The Medical Research Council (MRC) and the FSHD evaluation scale was used to assess muscle involvement1. Scapulothoracic arthrodesis and spinal stenosis surgeries were performed in eligible patients. RESULTS: There were 16 male and 16 female (mean age 34.4 years; range 12-73) patients. 6 shoulders of 4 patients aged between 2132 years underwent scapulothoracic arthrodesis (two bilateral, one left and one right sided). Only one 63 years old female patient with severe hyperlordosis had spinal fusion surgery. All of the patients undergoing these corrective surgeries have better functionality in daily life, as well as superior shoulder elevation. CONCLUSION: Until the emergence and clinical use of novel therapeutics, surgical interventions are indicated in carefully selected patients with FSHD to improve arm movements, the posture and the quality of life of patients in general. Scapulothorosic arthrodesis is a management with good clinical results and patient satisfaction. In selected cases other corrective orthopedic surgeries like spinal fusion may also be considered.

Surgical correction of hyperlordosis in facioscapulohumeral muscular dystrophy: A case report.

BACKGROUND: Hyperlordosis is common in facioscapulohumeral muscular dystrophy (FSHD), which cannot be controlled by bracing. While the surgical treatment is neither reported nor recommended in previous studies, we report the first corrective surgery for hyperlordosis in one wheelchair-dependent FSHD patient. CASE PRESENTATION: A 15-year-old, wheelchair-dependent girl complaining of hyperlordosis and lower extremity weakness was diagnosed as FSHD. Preoperative examination showed hyperlordosis of 116° with scoliosis of 44°. Posterior correction and bone graft fusion was performed. Postoperatively, the hyperlordosis was corrected to 72° and better sitting posture was gotten. 12 months' follow-up showed favorable correction with improvement in SF-36 and ODI score. CONCLUSIONS: The correction for hyperlordosis in FSHD is controversial. We report the first successful case of operative treatment by corrective spine surgery in these rare and demanding patient collective. Corrective surgery for spinal deformity, such as hyperlordosis and scoliosis, could do some help in posture and improve the quality of life especially in wheelchair-dependent patients.

Long-term results of Letournel scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A retrospective study of eight cases.

BACKGROUND: The aim of this study was to evaluate long-term radio-clinical outcome in scapulothoracic fusion using the Letournel technique (where the fourth rib is passed through the wing of the scapula and cerclage wires are tightened to the two ribs below) for patients suffering from facioscapulohumeral muscular dystrophy (FSHMD), a degenerative pathology affecting scapula-stabilizing muscles, leading to scapular winging, shoulder pain and restricted shoulder abduction and flexion, despite a functional deltoid muscle. METHODS: This retrospective study, with an average follow-up of 14 years (168 months; σ=73 months), included four patients who underwent a bilateral procedure, one side after the other, with shoulder abduction and flexion gain as primary endpoints. RESULTS: Mean improvement in range of motion was 36° (σ=32°) in abduction and 40° (σ=44°) in flexion. Postoperatively, active abduction averaged 99° (σ=28°) and active flexion 110° (σ=45°). In one case, a 58 year-old patient, gain in motion was 50° for abduction and 60° for anterior elevation. In one patient, range of motion showed bilateral decrease due to the natural course of the FSHMD. No intraoperative complications were reported. DISCUSSION: The Letournel technique seems to be an effective long-term solution in FSHMD, without age limit. Improvements appear to be steady over time, the only long-term limitations being the natural course of the disease itself. LEVEL OF EVIDENCE: IV - retrospective case series.

Correction of the Lower Lip With a Cartilage Graft and Lip Resection in Patients With Facioscapulohumeral Muscular Dystrophy.

Facioscapulohumeral muscular dystrophy is an autosomal-dominant, slowly progressive myopathy that involves facial, shoulder, and upper arm muscles. Facial muscle atrophy and weakness leads to drooping of the lower lip, which has unfavorable functional and aesthetic outcomes. While there are several methods to correct drooping of the lower lip, including lip resection, free vascularized muscle transfer, and fascia suspension, there are no reports describing the use of an auricular cartilage graft to elevate the lip. The use of an auricular cartilage graft has several advantages, including a less invasive procedure and a longer-lasting effect. In this study, 3 patients with facioscapulohumeral muscular dystrophy underwent surgery involving an auricular cartilage graft with lip resection to sustain the lower lip, and satisfactory results were obtained. This procedure is simple and minimally invasive; thus, the authors believe that this is an appropriate technique to correct similar patients of lip deformity.

Bimaxillary Osteotomy for Jaw Deformity With Facioscapulohumeral Muscular Dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is a subtype of muscular dystrophies which reduces the muscle strength, especially the regions of scapular, shoulder, and upper arms, progressively. According to progressive muscle weakness in FSHD, postoperative stability of patient with FSHD after orthognathic surgery is not reliably acquired same as healthy subjects. A 32-year-old woman with FSHD underwent orthodontic and orthognathic surgical treatment due to jaw deformity. She has been followed up more than 3 years after surgery and acquired skeletal stability. This patient is the first report that showed long-term skeletal stability after orthognathic surgery in patient with FSHD. This patient report suggests that it is possible to apply orthognathic surgical treatment to patients with FSHD.

The outcome of scapulothoracic arthrodesis using cerclage wires, plates, and allograft for facioscapulohumeral dystrophy.

BACKGROUND: Scapulothoracic arthrodesis is a recognized treatment for impaired shoulder function in patients with facioscapulohumeral dystrophy (FSHD) and is traditionally performed with autograft. The purpose of the study was to report our experience with scapulothoracic arthrodesis in patients with FSHD using allograft, rather than autograft, with particular respect to the effect of fusion on preoperative and postoperative Disabilities of the Arm, Shoulder and Hand (DASH) scores; forced vital capacity (FVC); and complications. MATERIALS AND METHODS: The early results of 14 consecutive scapulothoracic arthrodeses in FSHD patients with cerclage wires, plates, and allograft (fresh-frozen femoral heads) are reported. DASH scores were recorded preoperatively and 6 months postoperatively. Preoperative and 6-month FVCs were compared. The surgical technique is described. RESULTS: Eleven patients underwent 14 fusions. The mean follow-up period was 29 months (range, 6-50 months). Forward flexion improved from 70° to 115° (P = .001) and abduction from 68° to 109° (P = .007). The DASH score improved from 48 points to 34 points (P = .005). FVC decreased from 98% to 92% of predicted (P = .021), although this was not clinically significant. One patient required revision for nonunion, and metalwork was removed in 5 scapulae. A postoperative chest infection developed in 1 patient and a pleural effusion in another. One brachial plexus palsy occurred, which had almost completely resolved by 27 months postoperatively. CONCLUSION: Scapulothoracic arthrodesis can be performed successfully with allograft. The nonunion and complication rates are similar to those in the existing literature. A small decrease in FVC does occur but not to a clinically significant level.

Medium to long-term outcome of thoracoscapular arthrodesis with screw fixation for facioscapulohumeral muscular dystrophy.

BACKGROUND: Shoulder girdle muscle weakness is the most constant feature of facioscapulohumeral muscular dystrophy and leads to scapular winging. Mechanical fixation of the scapula to the thoracic wall provides a stable fulcrum on which the deltoid muscle can exert its action on the humerus. The aim of this study was to evaluate the medium to long-term outcome of thoracoscapular arthrodesis with screw fixation (the modified Howard-Copeland technique). METHODS: All patients with facioscapulohumeral dystrophy who underwent thoracoscapular arthrodesis with screw fixation and bone-grafting from July 1997 to July 2010 were retrospectively reviewed. Preoperative and postoperative clinical assessment included active shoulder elevation, the Constant score, a patient satisfaction score, and cosmetic satisfaction. Union was determined both clinically and radiographically. RESULTS: Thoracoscapular arthrodesis was performed in thirty-five shoulders in twenty-four patients; eleven patients underwent bilateral procedures. The principal study group consisted of thirty-two shoulders in twenty-one patients with a minimum follow-up of twenty-four months (mean, eighty-eight months; range, twenty-four to 174 months). The mean Constant score increased from 30 (range, 17 to 41) preoperatively to 61 (range, 30 to 90) postoperatively. The mean satisfaction score increased from 1 (range, 0 to 4) to 8.4 (range, 4 to 10). Early complications consisted of one pneumothorax, one superficial wound infection, and four early failures, two of which were associated with noncompliance with the postoperative regimen. Late complications consisted of one posttraumatic fracture resulting in loosening and one painful nonunion; both were treated successfully with revision. CONCLUSIONS: Thoracoscapular arthrodesis with screw fixation prevented scapular winging and improved short-term and long-term shoulder function in patients with facioscapulohumeral dystrophy. LEVEL OF EVIDENCE: Therapeutic level IV. See instructions for authors for a complete description of levels of evidence.

Can inhalation agents be used in the presence of a child with myopathy?

PURPOSE OF REVIEW: Anaesthesia for a child with a muscle disease is always challenging because there is a risk of malignant hyperthermia, rhabdomyolysis or hypermetabolic reaction if a halogenated agent is used. Ongoing progress in genetics helps in clarifying the link between malignant hyperthermia (a calcium channelopathy) and muscle diseases. RECENT FINDINGS: We provide a summary of the most recent clinical, pathophysiological and genetic information on those risks when the diagnosis is known or suspected preoperatively. Some simple clues are also given to help make a decision in the presence of an infant or child with hypotonia or motor delay but no diagnosis. SUMMARY: Only a few muscle diseases are really associated with a risk of malignant hyperthermia. The risk of rhabdomyolysis is more difficult to clarify and a multicentric database would be useful to evaluate the risk/benefit ratio of all anaesthetic drugs in patients with muscle diseases.

Scapular fixation in muscular dystrophy.

BACKGROUND: Winging of the scapula is caused by weakness of the thoracoscapular muscles, which allows the scapula to lift off the chest wall during shoulder movements. In facioscapulohumeral muscular dystrophy (and occasionally in other muscular dystrophies) there is selective weakness of the thoracoscapular muscles which may spare other shoulder muscles such as the deltoid muscle. This imbalance results in significant winging and loss of shoulder function. Historically, a number of different surgical and non-surgical interventions have been used to achieve scapular stability. This review examines the evidence available for the use of all scapular fixation techniques in muscular dystrophy, especially facioscapulohumeral muscular dystrophy. OBJECTIVES: To examine the evidence for the relative efficacy of scapular fixation techniques in muscular dystrophy (especially facioscapulohumeral muscular dystrophy) in improving upper limb function. SEARCH STRATEGY: We searched the Cochrane Neuromuscular Disease Group Trials Specialized Register (20 July 2009), The Cochrane Central Register of Controlled Trials (The Cochrane Library Issue 3, 2009) Medline (1966 to July 2009) and EMBASE (1980 to July 2009) for randomised trials. We also contacted authors of trials and other experts in the field. SELECTION CRITERIA: All reports of scapular fixation for muscular dystrophy, including quasi-randomised or randomised controlled trials, comparing any form of scapular fixation (surgical and non-surgical) in people (of all ages and of all severity) with scapular winging due to muscular dystrophy. Our primary outcome measure was objective improvement in shoulder abduction. Our secondary outcome measures were: patient-perceived improvement in performance of activities of daily living, cosmetic results, subjective improvement in pain and proportion of patients with significant postoperative complications. DATA COLLECTION AND ANALYSIS: We collated and summarised studies on the treatment of scapular winging in muscular dystrophy. MAIN RESULTS: No randomised trials were identified. We therefore present a review of the non-randomised literature available. AUTHORS' CONCLUSIONS: There is no evidence from randomised trials to support the suggestion from observational studies that operative interventions produce significant benefits. However, these have to be balanced against postoperative immobilisation, need for physiotherapy and potential complications. We conclude that a randomised trial would be difficult, but a register of cases and the use of a standardised assessment protocol would allow more accurate comparison of the disparate techniques.

Facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the development of targeted therapeutic interventions. The genetic defect is a loss of a critical number of a repetitive element (D4Z4) in the 4q subtelomeric region. The loss of the repeats results in specific changes in chromatin structure, although neither the molecular nor the cellular consequences of this change are known. Nevertheless, these epigenetic changes in chromatin structure offer a potential therapeutic target. This review discusses current management strategies in FSHD as well as potential therapeutic interventions to slow down or reverse the progressive muscle atrophy and weakness.

Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia.

INTRODUCTION: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a shortened fragment of a D4Z4 repeat on chromosome 4q35. The infantile form of FSHD is relatively rare. CASE REPORT: Within this case report, we describe the orthognatic surgery in a patient with infantile FSHD to diminish the functional and esthetic disturbances in the orofacial region. We saw a 20-year-old female patient suffering from infantile FSHD with remarkable macroglossia and frontal open bite. Diagnosis was based on molecular genetic investigations. To improve the functions of the stomatognathic system, we performed a tongue reduction and a segment osteotomy in the frontal aspect of the mandible. The patient was satisfied with the functional and esthetic results. Lip competence and occlusion were significantly improved. Thus, orthognatic surgery can enhance oral function, facial esthetics, and general quality of life.