Perioperative complications of scoliosis surgery in patients with Duchenne muscular dystrophy and spinal muscular atrophy, focussing on wound healing disorders.

PURPOSE: Patients with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA), both neuromuscular diseases, sustain spinal scoliosis in the course of their disease. To reduce the concomitant major morbidity and to improve their quality of life, patients require surgical spine stabilization. This can lead to complications like respiratory, cardiac or neurological complications or wound healing disorders (WHD). To find out the different complexities and risk factors increasing the chance to develop a WHD, the inpatient database was analyzed. METHODS: We performed a retrospective statistical study. Therefore, we analyzed the inpatient database of 180 patients (142 DMD and 38 SMA patients). The focus was on WHD. To figure out the risk factors leading to WHD, we conducted a logistic regression. RESULTS: Cardiac complications occurred most frequently, followed by pulmonary complications and neurological lesions. Fifty-seven out of 180 patients developed a WHD. In 23 cases the WHD was aseptic, in the other 34 cases dermal organisms, Pseudomonas species and intestinal organisms were responsible. By means of the logistic regression, we were able to identify two more risk factors, in addition to diagnosis and gender, for developing a WHD in our patients: the year of surgery and the direction of pelvic tilt. CONCLUSIONS: Most common complications following scoliosis surgery are respiratory and cardiac complications. WHD is a severe complication that implies a prolonged therapy. Some risk factors for developing WHD could be identified in this analysis. Specifically, these were the date of surgery and the direction of pelvic tilt.

Orthopedic management of patients with Pompe disease: a retrospective case series of 8 patients.

INTRODUCTION: Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients. PATIENTS AND METHODS: The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options. RESULTS: Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity. CONCLUSION: Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD.

Orthopaedic Disorders in Myotonic Dystrophy Type 1: descriptive clinical study of 21 patients.

BACKGROUND: Myotonic Dystrophy Type 1 (DM1) is the most common form of hereditary myopathy presenting in adults. This autosomal-dominant systemic disorder is caused by a CTG repeat, demonstrating various symptoms. A mild, classic and congenital form can be distinguished. Often the quality of life is reduced by orthopaedic problems, such as muscle weakness, contractures, foot or spinal deformities, which limit patients' mobility.The aim of our study was to gather information about the orthopaedic impairments in patients with DM1 in order to improve the medical care of patients, affected by this rare disease. METHODS: A retrospective clinical study was carried out including 21 patients (11 male and 10 female), all diagnosed with DM1 by genetic testing. All patients were seen during our special consultations for neuromuscular diseases, during which patients were interviewed and examined. We also reviewed surgery reports of our hospitalized patients. RESULTS: We observed several orthopaedic impairments: spinal deformities (scoliosis, hyperkyphosis, rigid spine), contractures (of the upper extremities and the lower extremities), foot deformities (equinus deformity, club foot, pes cavus, pes planovalgus, pes cavovarus, claw toes) and fractures.Five patients were affected by pulmonary diseases (obstructive airway diseases, restrictive lung dysfunctions). Twelve patients were affected by cardiac disorders (congenital heart defects, valvular heart defects, conduction disturbances, pulmonary hypertension, cardiomyopathy).Our patients received conservative therapy (physiotherapy, logopaedic therapy, ergotherapy) and we prescribed orthopaedic technical devices (orthopaedic custom-made shoes, insoles, lower and upper leg orthoses, wheelchair, Rehab Buggy). We performed surgery for spinal and foot deformities: the scoliosis of one patient was stabilized and seven patients underwent surgery for correction of foot deformities. CONCLUSIONS: An orthopaedic involvement in DM1 patients should not be underestimated. The most common orthopaedic impairments are contractures, foot deformities and spinal deformities. Contractures are typically located distally in the lower extremities, but can also occur in the hip or shoulder joints. Foot deformities could be treated with orthopaedic custom-made shoes, orthoses or insoles. Surgery is indicated for severe foot deformities or contractures.

Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients.

BACKGROUND: Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal muscular atrophy type II and IIIa. METHODS: For the purposes of a descriptive clinical study, we observed 126 patients, 99 with SMA II and 27 with SMA IIIa and the data of scoliosis, pelvic obliquity and relative age-dependent inspiratory vital capacity were evaluated. RESULTS: Scoliosis and pelvic obliquity were regularly observed already in children under 4 years old in the group with SMA II. The severity and progression of both conditions were much more pronounced in the SMA II group than in the IIIa group. There was already a distinct reduction in relative vital capacity in the group of 4- to 6-year-olds with SMA II. CONCLUSIONS: The differences between the two SMA types II and IIIa described in this study should be taken into consideration when developing new treatments and in management of scoliosis in the childhood years of these patients.

Surgical treatment of Duchenne muscular dystrophy patients in Germany: the present situation.

In 1988, we familiarised ourselves at Poitiers with the concept of operative treatment of the lower limbs and the spine in Duchenne muscular dystrophy (DMD) patients which Yves Rideau and his collaborators had developed there in the early 1980s. Thereupon, we immediately established the techniques at our home universities, first at the Technische Universität Aachen and, from 1999 on, at the Universitätsklinikum Erlangen, Germany. Since then, we have applied the technique to more than 500 DMD patients in total by performing more than 800 operations on the lower limbs and/or spine. In support of findings reported by Professor Rideau in this issue we observed that, where patients are still ambulatory at the time of operation, the operation delays the point at which patients become wheelchair-bound by about two years. Likewise, patients receiving this treatment were/are also able to perform the Gowers' manoeuvre for around two years longer.

Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients.

INTRODUCTION: The early development of progressive scoliosis with pelvic obliquity is the most significant orthopaedic problem for non-ambulatory children with spinal muscular atrophy (SMA). PATIENTS: 24 SMA patients were operated on for scoliosis using the ISOLA(®) system and 17 patients using a telescopic rod. The average age at spinal surgery was 12.3 years (6.5-22.7) in the ISOLA(®) group and 6.7 years (4.8-10.9) in the telescopic rod group. RESULTS: The Cobb angle was corrected on average from pre-operative 83°(54°-120°) to post-operative 39°(5°-70°) in the ISOLA(®) group and, respectively, from 62°(28°-86°) to 18°(0°-34°) in the telescopic rod group. Mean loss of correction at mean follow-up of 6 years (3-10) was 6°(0°-33°) in the ISOLA(®) group and at mean follow-up of 8.6 years (3-12) 13°(0°-49°) in the telescopic rod group excluding the patients with rod failure. The vital capacity is not worsened by these operations in comparison to the natural course. After telescopic rods were implanted, there were some unsatisfactory results due to crankshaft phenomenon and an increase of pelvic obliquity. CONCLUSION: Our recommendation for non-ambulatory SMA patients is to have definitive stabilisation using multisegmental instrumentation, starting from the age of 10 to 12 years.

Reconstruction of a child's forefoot defect using a distally based pedicled medial plantar flap.

This report describes a case of a 10-year-old boy who received a distally based, pedicled medial plantar artery flap to cover a defect on the distal lateral side of his right foot. The defect resulted from amniotic constriction. The flap served as defect coverage and was kept viable solely by the distal medial plantar vessels. Use of this particular kind of flap proves advantageous in that it provides good protection in the weight-bearing area of the foot, while causing only a minor donor site defect.

Fractures in proximal spinal muscular atrophy.

INTRODUCTION: Fractures are a common problem for patients with spinal muscular atrophy (SMA). PATIENTS: A total of 131 patients with proximal SMA with an average age of 13.2 +/- 9.2 years (0.7-65.6) were evaluated retrospectively. In 60 patients 94 different fractures were observed. The group consisted of 11 patients with type Ib, 81 with type II, 33 with type IIIa, 4 with IIIb and 2 with type IV. 38 of 81 SMA II patients and 17 of 33 SMA IIIa patients had suffered fractures at an average age of 8.3 +/- 5.3 years (0.0-25.1) (SMA II) and 9.3 +/- 6.0 years (0.0-22.1) (SMA IIIa). RESULTS: The most frequent fractures were of the femur (50), usually distal, of the lower leg and ankle (15), and upper arm (9). The distribution of fractures was different in SMA II and SMA IIIa. Most of the fractures could be treated conservatively. Only two femoral shaft fractures, one upper arm and a lower arm fracture were treated surgically by osteosynthesis. CONCLUSION: Competent fracture treatment is an important part of the orthopaedic care of SMA patients.

Outcome after Achilles tendon lengthening with a posterior capsulolysis according to Imhäuser in idiopathic congenital clubfoot.

BACKGROUND: The Ponseti method has radically reduced the need for extensive surgical treatment in idiopathic clubfoot. At present there are no universally accepted criteria for the use of the various surgical techniques. MATERIAL AND METHODS: 77 patients with idiopathic congenital clubfoot (111 affected feet) were treated according to Imhäuser. The operative release included z-shaped Achilles tendon lengthening and a posterior capsulolysis of the talocrural and talocalcaneal joint. In case of relapse in infancy and school age, a transfer of the tendon of the anterior tibial muscle (n=26) and a release of the alonavicular, navicular cuneiform I and cuneiform metatarsal I joints (n=15) were carried out. 49 patients with 70 clubfeet were followed up at a mean age of 9.8 years (+/- 7 years) and the length of follow-up averaged 8.6 years (+/- 6.2 years). RESULTS: In 71.4% (50 feet) a "very good" or "good" correction of shape and in 64.2% (45 feet) "very good" or "good" function was achieved. A statistically significant correlation was found between delayed onset of walking and the risk of revision surgery due to a relapse of the deformity. CONCLUSIONS: Important problems in the treatment of clubfoot according to Imhäuser in our study were residual partial forefoot adduction and restriction of mobility in the upper ankle joint. Our analysis of radiographs showed that despite unsatisfactory X-ray findings, clinical correction and mobility were good. Rigid congenital clubfeet, however, require peritalar releases.

Treatment of scoliosis in intermediate spinal muscular atrophy (SMA type II) in childhood.

Summary. Progressive scoliosis with increasing pelvic obliquity in early childhood of patients with SMA type II is a common feature in this disease. Spinal surgery in muscle disorders should be carried out as soon as a progressive curve of more then 20 Celsius Cobb and a preserved FVC of 20-30% is proved. In later stages or severe forms of SMA II spinal stabilization becomes often impossible due to the respiratory insufficiency, the poor general condition and the severity of the scoliosis with marked pelvic obliquity. A special telescope rod was developed in order to enable a lengthening of this instrumentation during growth for children treated in early childhood. In 15 of 20 patients with SMA II in early childhood not satisfactory results after telescope rod implantation were observed. In spite of the telescope technique crankshaft phenomenon appeared and curve progression were observed. So then we stopped telescope rod implantation. This instrumentation could be in principle a good therapeutical tool for this indication, but its technical manufacturing has firstly to be improved decisively. For SMA II patients younger than 10 years with progressive scoliosis our therapeutic recommendation is nowadays a corset until the age of 10-12 years followed by definitive surgical correction using other multisegmental instrumentation like the Isola(R) system.

Percutaneous Treatment of Osteoid Osteomas: Combonation of Drill Biopsy and Subsequent Ethanol Injection.

Osteoid osteoma is known as a benign bone-producing tumor. Histologically, it is characterized by a highly vascularized connective tissue with fibrous bone trabeculae, osteoid, osteoblasts, and numerous osteoclasts. Clinically, patients complain of pain during the night with good response to acetylsalicylic acid. Conventional radiographs show a spindle-shaped lesion with a central lucency not larger than 1 cm in size, which represents the nidus. Osteoid osteomas are most common in the diaphysis of the long bones. A successful therapy requires complete removal of the nidus, either surgically or percutaneously. Our experience is with CT-guided percutaneous drilling of the nidus with subsequent ethanol injection to sclerose remnants of the nidus.

Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients.

PURPOSE: The purpose of this study is to determine the use of orthopaedic and assistive devices for Spinal muscular atrophy (SMA) patients, following a survey of 194 patients. METHOD: The use of wheelchairs, corsets and orthoses was evaluated in 194 SMA patients whose mean age was 12.6 (SD 7.2, 0.7-41.1). There were 14 patients with SMA type Ib (age range 1.7-36.9), 133 with type II (age range 0.7-37.7), 42 with type IIIa (age range 3.2-41.1) and 5 with type IIIb (age range 8.0-20.0). RESULTS: One hundred and sixteen patients (60%) had powered and 29 patients (15%) manual wheelchairs. Nineteen patients (10%) used long leg orthoses. Ten patients (5%) used swivel walkers and 26 (13%) had standing frames. Twenty-six patients (13%) received lower leg orthoses because of foot deformities. Eight patients (4%) used night splints for the lower limbs. One hundred and fifteen patients (59%) were fitted with corsets because of progressive scoliosis. CONCLUSION: This is the first study about the provision of orthopaedic and assistive devices in a large group of SMA patients. Following the results of this survey we can optimise the strategy of providing orthoses and assistive devices for SMA patients and better adapt them to the patient's individual needs.

Contractures of the lower extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection.

BACKGROUND: Early development of contractures and progressive scoliosis with pelvic obliquity are the most significant orthopaedic problems for children with the intermediate form of spinal muscular atrophy, SMA type II. This study deals with the restrictions of the passive range of motion and the development of contractures of the lower extremities in these patients. PATIENTS AND METHODS: We followed up 143 patients, 74 female and 69 male, with SMA type II for an average of 5.3 years (± 4.0, 0.2 - 18.7). Their average age at the first examination was 8.4 years (± 6.6, 0.1 - 34.1) and at the last examination 12.3 years (± 6.5, 0.7 - 37.1). The passive range of joint motion was determined using a goniometer. According to Johnson et al. (1992), we calculated the relative contracture index (CI). RESULTS: The loss of range of motion (ROM) and the contractures of the joints of the lower extremities (hip, knee and ankle) develop early and increase progressively with age. Marked restriction of motion with severe flexion contractures in some cases was observed in the knee followed by the hip and ankle joint. CONCLUSION: The findings of this study give us more information about the development of contractures and deformities of the joints of the lower extremities and aim to help to improve the quality of orthopaedic care of patients with SMA type II.

Contractures of the upper extremities in spinal muscular atrophy type II. Descriptive clinical study with retrospective data collection.

BACKGROUND: The most significant orthopaedic problem for patients with the intermediate form of spinal muscular atrophy, SMA type II, is the appearance of contractures in addition to progressive scoliosis and pelvic obliquity with increasing loss of sitting stability. This study deals with restrictions of the passive range of motion and the development of contractures in the joints of the upper extremities in these patients. MATERIAL AND METHODS: We followed up 143 patients, 74 female and 69 male, with SMA type II for an average of 5.3 years (± 4.0, 0.2 - 18.7). Their average age at the first examination was 8.4 years (± 6.6, 0.1 - 34.1) and at the last examination 12.3 years (± 6.5, 0.7 - 37.1). The passive range of joint motion was determined using a goniometer. According to Johnson et al. (1992), we calculated the relative contracture index (CI). RESULTS: The loss of range of motion and the contractures of the joints of the upper extremities (shoulder, elbow and wrist) increased progressively with age. The most marked restriction of motion was in the elbow joint with severe flexion contractures in some cases. CONCLUSION: The findings of this study give us more information about the development of contractures of the upper extremities and aim to help to improve the quality of orthopaedic care of patients with SMA type II.