Spinal stabilisation in Duchenne muscular dystrophy.

Of 55 patients with Duchenne muscular dystrophy offered surgical stabilisation of the spine, 32 accepted and 23 refused. We compared both groups pre-operatively and at six-month intervals in respect of survival, forced vital capacity, peak expiratory flow rate and severity of scoliosis. In the nonoperated patients, the forced vital capacity deteriorated by a mean of 8% per annum; in the operated group it remained static for 36 months and diminished slightly thereafter. Spinal stabilisation resulted in an improvement in the peak expiratory flow rate which was maintained for up to five years. In the nonoperated patients the scoliosis progressed from a mean of 37 degrees to a mean of 89 degrees at five years; in the stabilised spines it was improved from a mean of 47 degrees to a mean 34 degrees at five years. There was significantly improved survival in the patients who had undergone spinal stabilisation.     

Pulmonary function and scoliosis in Duchenne dystrophy

Pulmonary function data were evaluated in 68 Duchenne muscular dystrophy patients to determine the rate of decline of the percentage of normal forced vital capacity (FVC). The percentage of normal FVC declined most rapidly during the adolescent growth spurt, which demonstrated a need for an accurate and reliable means for determining height in these patients. The age at 35% of normal FVC was 14.9 +/- 3.6 years (2 SD), and survival for the 28 patients who died was 3.2 (range 0.2-5.7) years. Pulmonary function tests were performed 10-74 months after spinal stabilization on 21 Duchenne dystrophy patients and compared with 46 nonfused scoliotic Duchenne patients. No difference was found in the rate of deterioration of the percentage of normal FVC.     

Progression of scoliosis in Duchenne muscular dystrophy

We reviewed the clinical charts and spinal radiographs of fifty-one boys who had Duchenne muscular dystrophy, had not had surgical treatment of the spine, and had been followed until death. All had scoliosis. None of the following variables was useful in predicting which curves would become severe: age when the patient initially walked, age when he ceased walking, age at onset of spinal collapse, surgical release of the iliotibial bands, or age at the time of death. Radiographs were made within eighteen months before death for thirty-three patients; in thirty-one of them, the final curve exceeded 40 degrees and in seventeen, 90 degrees. For the remaining eighteen patients, final radiographs were made more than eighteen months before death; at that time, eight of them already had a curve of more than 90 degrees. Although there was a relationship between extension of the lumbar spine and severity of scoliosis at the time of final follow-up, early maintenance of the lumbar spine in extension rarely prevented the development of a severe curve. For most of the patients who had a severe curve, sitting was difficult and was accompanied by breakdown of the skin and pain. When a patient's curve exceeded 35 degrees, the vital capacity usually was less than 40 per cent of the predicted normal value. Therefore, when walking becomes impossible for boys who have Duchenne muscular dystrophy, routine spinal arthrodesis should be considered.     

Treatment of foot deformities in patients with Duchenne muscular dystrophy

AIM: There are different approaches to treat foot deformities in Duchenne muscular dystrophy. Some authors recommend conservative, others only surgical means. The purpose of this study was to compare the outcome of both non-surgical and surgical treatment. METHOD: The records of 91 boys with DMD were retrospectively evaluated. The three treatment groups studied included group 1, those who had no surgery, group 2, those who had surgery to correct foot position, and group 3, those who had surgery to maintain ambulation and correct foot position. RESULTS: Although conservative treatment of the feet in group 1 was carried out, severe equinovarus deformities developed. Surgery for the foot deformity including posterior tibial transfer was successful in 94 % at mean 8.5 years post-operative follow-up. The mean age of cessation of ambulation for those who had surgery to maintain ambulation was 11.2 years versus 10.3 years of those who did not have surgery (p < 0.05). CONCLUSION: In patients with DMD, lower extremity surgery including posterior tibial tendon transfer can successfully correct and maintain foot position, as well as prolong ambulation. Early surgical treatment is required since conservative means can not prevent progression to severe equinovarus deformities.     

Comparison of survival analysis between surgical and non-surgical treatments in Duchenne muscular dystrophy scoliosis

BACKGROUND CONTEXTThere are still controversies about the effects of spinal surgeries for Duchenne muscular dystrophy (DMD) scoliosis on functional outcome, respiratory function, and the survival rate.PURPOSEThe purpose of this retrospective investigation was to compare the clinical course over time between the patients who were treated surgically and those who were treated nonsurgically. Through this comparison, we tried to determine how surgical treatment could affect the functional status, pulmonary function, and survival rate in patients with DMD scoliosis.STUDY DESIGN/SETTINGSingle-center retrospective cohort study.PATIENT SAMPLEWe reviewed the clinical data of 199 male patients with DMD scoliosis who were followed up at our center for an average of 6.4 years between 2003 and 2017.OUTCOME MEASURESThe basic radiologic parameters evaluated include the Cobb angle and pelvic obliquity on a whole spine X-ray. Further, the Swinyard scale for functional status, forced vital capacity (FVC) for respiratory function, and mortality were compared between the surgical group and nonsurgical group.METHODSThe radiologic parameters and Swinyard scale stage were compared between the surgical group and nonsurgical group at baseline and 2, 5, and 10 years. For the FVC, serial changes every year were investigated in both groups. Mortality was surveyed between the surgical group and nonsurgical group.RESULTSOf the 199 patients, 99 patients underwent the instrumented spinal fusion surgery and 100 patients in the nonsurgical group opted for conservative management. Radiologic results of the two groups were not different at baseline, but during the follow-up periods, the surgical group demonstrated better Cobb angles and pelvic obliquities. The surgical group showed a better functional status than did the nonsurgical group (6.7±0.9 versus [vs.] 7.2±0.7, p<.001). These functional differences between the groups were continuously observed during the follow-up period. Similarly, the FVC at baseline was higher in the surgical group than in the nonsurgical group (1005.7±421.4 mL vs. 787.3±574.1 mL, p=.005). Although FVC in the nonsurgical group consistently decreased during the follow-up (4.8% decrease/year), FVC in the surgical group increased up to the 2-year follow-up period compared with the baseline value and decreased during the follow-up period (2.8% decrease/year). Mortality was higher in the nonsurgical group than in the surgical group (n=22/100, 22.0% vs. n=8/99, 8.1%; p<.001) during an average follow-up duration of 6.4 years. Mean survival was longer in the surgical group than in the nonsurgical group (12.2 years vs. 8.3 years, hazard ratio=2.43, p=.02).CONCLUSIONSSpinal surgery for DMD scoliosis improved the FVC for approximately 2 years postoperatively compared to non-surgical treatment. The surgical group had a better functional status and FVC at baseline than the non-surgical group. The positive effect of surgical treatment on the FVC is owing to scoliosis correction, which delayed the decrease of FVC and consequently extended the survival rate of the patients with DMD scoliosis.     

Lung function in Duchenne muscular dystrophy

Summary Over 90% of patients with Duchenne muscular dystrophy develop a scoliosis when they become wheelchair bound. The scoliosis is progressive and is associated with deteriorating lung function. The purpose of this study was firstly to assess whether a standing regimen, in patients who had gone off their feet, protected against the development of scoliosis and affected their lung function, and secondly to evaluate the effect of spinal stabilisation in patients who had developed a progressive scoliosis. The results of the first part of this study showed that a standing regimen significantly delayed the progression of scoliosis and that patients who complied with the standing regimen had a significantly better lung function, as measured by vital capacity and peak expiratory flow rate, than those patients who did not stand. Spinal stabilisation prevented deterioration in the scoliosis, whereas the deformity continued to progress relentlessly in patients who did not undergo surgery. The patients who underwent spinal stabilisation maintained a significantly better lung function and had an improved survival compared with the patients who refused surgery.Paper read at the ESDS meeting, Birmingham 1994, and selected for full publication.     

Preoperative inspiratory muscle training for patients with severe scoliosis and high-risk pulmonary dysfunction in duchenne muscular dystrophy

Severe spinal collapse and pulmonary function deterioration are so common in patients with Duchenne muscular dystrophy (DMD). The limit for scoliosis surgery has been a minimum forced vital capacity (FVC) of about 30% of predicted value. DMD patients with low %FVC who might benefit from scoliosis surgery have not been being offered surgery. Between 2005 and 2007, a total of 17 DMD patients with FVC of <30% at admission underwent scoliosis surgery. %FVC at admission was 22% (range 16–27%). After admission, they were trained with inspiratory muscle training, using a pulmonary trainer (threshold IMT) for 6 weeks prior to surgery and encouraged to continue the training even after surgery and discharge. %FVC increased in all patients and noted 26% (range 22–31%) the day before surgery. The preoperative scoliosis was 97° (range 81°–130°). All patients had posterior spinal fusion and were extubated on the operative day. No patients developed any respiratory complications. No ventilatory support was needed. The mean ICU stay was 0.5 days (range 0–1 day). The postoperative scoliosis was 31° (range 18°–40°). DMD patients with severe scoliosis and FVC considered too low to permit reasonable surgical risk could undergo surgery after inspiratory muscle training, with no major complications.     

Surgical prevention of foot deformity in patients with Duchenne muscular dystrophy

The purpose of this study was to evaluate the results of a modification of the posterior tibial tendon transfer in Duchenne muscular dystrophy patients with regard to foot deformity and ambulation. The records of 57 patients with Duchenne muscular dystrophy were retrospectively reviewed. Three treatment groups were studied: group 1, those who had surgery to maintain ambulation; group 2, those who had surgery to correct and maintain foot position; and group 3, those who had no surgery. All surgical patients had posterior tibial tendon transfer and Achilles tendon lengthening as part of their procedure. Thirty-four patients returned for interviews and examinations to assess outcomes and foot position. The mean age at cessation of ambulation for those who had surgery was 11.2 years versus 10.3 years for those who did not have surgery. Of 48 feet in 24 patients who underwent lower extremity surgery to correct and maintain foot position, 94% were clinically satisfactory at a mean of 8.5 years after surgery. Regardless of the desire to continue ambulation, all patients should have posterior tibial tendon transfer, Achilles tendon lengthening, and toe flexor tenotomies to maintain plantigrade feet.     

Surgical management of severe scoliosis with high-risk pulmonary dysfunction in Duchenne muscular dystrophy

Between 2005 and 2007, 14 patients who had severe scoliosis in Duchenne muscular dystrophy (DMD) and a poor forced vital capacity (FVC) of <30% at admission underwent scoliosis surgery. FVC on admission was 21.6% (range, 16–27%). The patients were given respiratory muscle training using a pulmonary trainer (Threshold IMT, Philips Respironics, Inc.) for six weeks before operation. FVC increased to 26.2% (range, 22–31%) the day before operation. The mean preoperative scoliosis was 98° (range, 81°–130°). All patients underwent posterior fusion and all-screw construction and were extubated on the operative day. No patients developed any respiratory complications. The postoperative scoliosis was 34° (range, 20°–40°) (65%). FVC remained stable at six weeks after operation. FVC decreased to 19.8% (range, 16–25%) and the mean scoliosis was 35° (range, 23°–40°)(64%) at two years after operation. DMD patients with severe scoliosis and FVC considered too low to permit reasonable surgical risk could undergo surgery and could benefit from surgery.     

Should foot surgery be performed for children with Duchenne muscular dystrophy?

The authors conducted a retrospective study to determine the outcome of foot surgery in full-time wheelchair users with Duchenne muscular dystrophy. Medical records on all 88 teenaged boys with Duchenne muscular dystrophy treated at the authors' institution were obtained and reviewed. Patients completed questions about shoe wear, pain, hypersensitivity, and cosmesis, and a foot examination was performed. There were no significant differences between patients who did and did not receive foot surgery with respect to shoe wear (P > 0.05), pain (P > 0.05), hypersensitivity (P > 0.05), or cosmesis (P > 0.05). Hindfoot motion was significantly better (P > 0.05) but equinus contracture was significantly worse (P > 0.05) in patients who had not had surgery.     

Duchenne muscular dystrophy

Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. Affected boys begin manifesting signs of disease early in life, cease walking at the beginning of the second decade, and usually die by age 20 years. Until treatment of the basic genetic defect is available, medical, surgical, and rehabilitative approaches can be used to maintain patient function and comfort. Corticosteroids, including prednisone and a related compound, deflazacort, have recently been shown to markedly delay the loss of muscle strength and function in boys with Duchenne muscular dystrophy. Surgical release of lower extremity contractures may benefit some patients. Approximately 90% of boys with Duchenne muscular dystrophy will develop severe scoliosis, which is not amenable to control by nonsurgical means such as bracing or adaptive seating. The most effective treatment for severe scoliosis is prevention by intervening with early spinal fusion utilizing segmental instrumentation as soon as curves are ascertained and before the onset of severe pulmonary or cardiac dysfunction.     

Stabilization of the collapsing spine in duchenne muscular dystrophy.

Of 41 patients with Duchenne muscular dystrophy, no ambulatory patient had scoliosis greater than 19 degrees. Non-ambulatory patients were prophylactically placed in body jackets, which kept the spine flexible and provided adequate support for sitting in the majority of patients. Ten patients had posterior spine fusion for progressive spinal collapse. The procedure was extensive with significant blood loss but boney fusion was achieved in every case. Pulmonary complications were minimized by performing preoperative tracheostomy on all patients who had vital capacities less than 40% and or non-functional coughs. Spinal fusion permitted long-term sitting stability despite the progression of the disease.     

Spinal fusion in patients with Duchenne's muscular dystrophy and a low forced vital capacity

Traditionally, spinal fusion has been denied to patients with scoliosis secondary to Duchenne's muscular dystrophy (DMD) when their forced vital capacity (FVC) is less than 30-40% of predicted values (PFVC). The reasons for this decision are a theoretically increased risk of adverse events from a prolonged anaesthetic and extensive surgery. This paper presents a retrospective analysis of 30 patients with DMD scoliosis who underwent posterior spinal fusion at the Royal National Orthopaedic Hospital. Two subgroups of patients were compared: those with more than 30% PFVC (17 patients) and those with less than 30% PVFC (13 patients). One patient in each group required a temporary tracheotomy and there were nine complications in total. The post-operative stay for patients in each group was similar (24 days in the >30% group, 20 days in the <30% group) and the complication rate was comparable with other published series. We conclude that spinal fusion can be offered to patients with DMD even in the presence of a low FVC.     

Spinal deformities in patients with muscular dystrophy other than Duchenne. A review of 11 patients having surgical treatment

Eleven patients diagnosed as having muscular dystrophy and who underwent posterior spinal fusion were reviewed: Becker dystrophy in one, limb girdle in two, facioscapulohumeral in one, myopathia unspecified in one, myotonia dystrophica in two, myotonia congenita in one, and hypotonia congenita in three. There were eight females and three males. The curve pattern was thoracic in four, thoracolumbar in three, double thoracic and thoracolumbar in three, and thoracolumbar lordosis in one. Scoliosis was associated with kyphosis in two, with lumbar lordosis in one, and thoracic lordosis in four patients associated with poor vital capacity and shortness of breath. Seven patients had nonoperative treatment, five showing increase of the curve, and two having control of the curve. All patients had posterior spinal fusion with instrumentation with a follow-up of 9-89 months (average, 41 months). Postoperative support was used in all but one. Major complications occurred in four patients: a symptom of vascular obstruction of the duodenum in two, extubation delayed until the 7th day postoperatively in one and pseudarthrosis in one resulting in an increasing curve and refusion. One patient (limb girdle), 6 years after surgery at 21 years died from cardiomyopathy. The second (limb girdle) lost ambulation at age 22 years, 6.6 years after spinal surgery. In conclusion, patients with muscular dystrophies other than Duchenne generally have slowly evolving curves, and the use of an orthosis in the juvenile years controlled the curve until the pubertal growth spurt, when progression occurred. Surgical treatment was successful in stabilizing the deformities.     

Peripheral nerve blocks as the sole anesthetic technique in a patient with severe Duchenne muscular dystrophy

General anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are associated with high risks of complications, including rhabdomyolysis, malignant hyperthermia, hemodynamic instability, and postoperative mechanical ventilation. Here, we describe peripheral nerve blocks as a safe approach to anesthesia in a patient with severe Duchenne muscular dystrophy who was scheduled to undergo surgery. A 22-year-old male patient was scheduled to undergo reduction and internal fixation of a left distal femur fracture. He had been diagnosed with Duchenne muscular dystrophy at 5 years of age, and had no locomotive capability except for that of the finger flexors and toe extensors. He had developed symptoms associated with dyspnea 5 years before and required intermittent ventilation. We blocked the femoral nerve, lateral femoral cutaneous nerve, and parasacral plexus under ultrasound on the left leg. The patient underwent a successful operation using peripheral nerve blocks with no complications. In conclusion general anesthesia and central neuraxial blockades in patients with severe Duchenne muscular dystrophy are unsafe approaches to anesthesia because of hemodynamic instability and respiratory depression. Peripheral nerve blocks are the best way to reduce the risks of critical complications, and are a safe and feasible approach to anesthesia in patients with severe Duchenne muscular dystrophy.     

Bone mineral density and fractures in boys with Duchenne muscular dystrophy

The relationships between bone density, mobility, and fractures were assessed in 41 boys with Duchenne muscular dystrophy. Bone density in the lumbar spine was only slightly decreased while the boys were ambulatory (mean z-score, -0.8), but significantly decreased with loss of ambulation (mean z-score, -1.7). In contrast, bone density in the proximal femur was profoundly diminished even when gait was minimally affected (mean z-score, -1.6), and then progressively decreased to nearly 4 standard deviations below age-matched normals (mean z-score, -3.9). These are consistent with the findings that 18 (44%) of the boys sustained a fracture, 66% of these fractures involved the lower extremities, and there were no spinal compression fractures. Furthermore, four (44%) of nine boys who were walking with aids or support at the time of fracture never resumed walking after the fracture. Osteoporosis is most profound in the lower extremities of boys with Duchenne muscular dystrophy, and begins to develop early while still ambulating. Frequent fractures that may result in loss of ambulation are the clinical consequences.     

Pulmonary function before and after anterior spinal surgery in adult idiopathic scoliosis.

BACKGROUND: Little is known about the long term effects of anterior spinal surgery on pulmonary function in adult patients with idiopathic scoliosis. A study was therefore undertaken of pulmonary function before and after anterior spinal surgery in this group of patients. METHODS: Fourteen patients (12 women) of mean age 26.5 years (range 17-50, 10 > or = 20 years) were studied. All 14 patients underwent thoracotomy and anterior arthrodesis, and five also underwent posterior arthrodesis. Scoliosis curves and lung volumes were measured preoperatively and at a mean follow up of 32 months (range 14-49) after surgery. RESULTS: At long term follow up after surgery the mean (SD) Cobb angle of the thoracic curve improved from 59 degrees (25 degrees) to 39 degrees (18 degrees), a correction of 31%. Despite this there was a fall in mean forced vital capacity (FVC) of 0.21 litres (95% confidence interval 0.04 to 0.38). In the patients who underwent anterior surgery without posterior surgery (n = 9) there was a fall in mean FVC of 0.31 litres (95% confidence interval 0.12 to 0.50); mean forced expiratory volume in one second and total lung capacity were also reduced and there was an increase in mean residual volume. CONCLUSIONS: Forced vital capacity is reduced at long term follow up in adult patients with idiopathic scoliosis who undergo anterior spinal surgery. The fall in FVC is small and is unlikely to be of clinical significance in patients with reasonable lung function in whom surgery is planned for prevention of curve progression or improvement of cosmetic appearance and pain. However, surgical intervention should not be undertaken in an attempt to improve pulmonary function.     

Duchenne肌营养不良患者的脊柱融合

目的：观察肌营养不良患者脊柱固定融合术的疗效。方法：对１９８２～１９９５年接受脊柱融合的１２例肌营养不良患者的病历和Ｘ线片进行回顾性研究。随访时间不少于１年。资料包括患者术前肺功能、手术步骤、随访时Ｘ线片Ｃｏｂｂ角和骨盆倾斜程度及患者功能状态。结果：手术时患者年龄为１３５岁,术前肺功能为５６％,脊柱侧凸平均４８°,骨盆倾斜平均１５°,所有患者均接受后路融合双鲁氏棒固定术和髂骨植骨。最后随访时没有发现不融合病例,脊柱侧凸平均３１°,骨盆倾斜平均８°,所有患者均能够坐位而无不适。结论：后路融合双鲁氏棒固定术有助于维持肌营养不良患者的脊柱序列,建议对该类患者在脊柱侧凸发展至３０°前行脊柱融合术。     

The effect of Luque-Galveston fusion on curve, respiratory function and quality of life in Duchenne muscular dystrophy

The aim of this retrospective study was to evaluate the long-term effect of the Luque-Galveston spinal fusion in Duchenne muscular dystrophy (DMD) patients. Twenty patients had undergone this operation at a mean age of 153 years (surgical group, A). The correction of their scoliosis amounted to +/- 55.8%, after an average follow-up period of 3 years. This is in accordance with the literature. The authors would therefore advise to perform spinal fusion in an early stage of the disease, once a rapid evolution of the scoliosis is seen. The decline of respiratory function slightly diminished after surgery, but not significantly. This means that no expectations should be made to improve respiratory function, as respiratory function decline continues relentlessly. Most authors agree with this statement. Patient satisfaction after surgery was relatively high, mainly because of an improved sitting balance, but only 60% of the questionnaires were available. Twenty-five other patients were not operated upon (non-surgical group, B). They had better results at ages 153 and 183, but this was mainly due to the fact that group B contained more benign cases according to the Oda classification.