Albert Fujak

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.

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.

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 patients individual needs.

Aktuelle Strategien der konservativen und operativen Therapie der häufigsten Muskelerkrankungen

Though up to now no causal treatment for the majority of neuromuscular disorders is available, their disease progress and above all the quality of life of these patients can be decisively improved by established medical procedures. The main symptom is variably rapid, progressive muscle weakness, which leads to muscular imbalance and differently manifested impairment of motor functions. This results in the essential orthopaedic problems in these patients, e.g. contractures and deformities of the lower and upper extremities, foot deformities and sitting instability due to progressive scoliosis. Since the affected muscles have no physiological adaptability, they cannot be trained like healthy muscles. The orthopaedic treatment includes conservative methods, e.g. physiotherapy, orthotic devices and aids as well as surgical spine stabilisation and correction of the contractures of the lower extremities. Very important in the care of patients with neuromuscular disorders are the early prophylaxis and treatment of respiratory insufficiency by regular respiratory therapy to learn breathing and coughing techniques and self-exercises as well as the timely initiation of assisted ventilation.

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

BackgroundMyotonic 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.MethodsA 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.ResultsWe 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.ConclusionsAn 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.

Current strategies of conservative and operative treatment of the most frequent muscular disorders

Though up to now no causal treatment for the majority of neuromuscular disorders is available, their disease progress and above all the quality of life of these patients can be decisively improved by established medical procedures. The main symptom is variably rapid, progressive muscle weakness, which leads to muscular imbalance and differently manifested impairment of motor functions. This results in the essential orthopaedic problems in these patients, e.g. contractures and deformities of the lower and upper extremities, foot deformities and sitting instability due to progressive scoliosis. Since the affected muscles have no physiological adaptability, they cannot be trained like healthy muscles. The orthopaedic treatment includes conservative methods, e.g. physiotherapy, orthotic devices and aids as well as surgical spine stabilisation and correction of the contractures of the lower extremities. Very important in the care of patients with neuromuscular disorders are the early prophylaxis and treatment of respiratory insufficiency by regular respiratory therapy to learn breathing and coughing techniques and self-exercises as well as the timely initiation of assisted ventilation.

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.

Aktuelle Betreuungsstrategien bei Duchenne-Muskeldystrophie

BACKGROUND The medical care of patients with Duchenne muscular dystrophy (DMD) is an interdisciplinary and multifaceted task. The vast majority of those affected show a nearly constant course which is reflected in a corresponding stage-oriented treatment concept. Although there is still no causal therapy available for DMD, the course and in particular the quality of life of patients can be decisively improved by established medical practices. THERAPEUTIC STRATEGIES The orthopedic problems of DMD patients include contractures of the upper and lower extremities as well as sitting instability due to progressive scoliosis with pelvic imbalance. The orthopedic treatment incorporates conservative measures, such as physiotherapy, provision of orthotic devices and wheelchairs as well as surgery to resolve contractures of the lower extremities and surgical stabilization of the spine. Furthermore, in these patients orthopedic surgeons and trauma surgeons are confronted with the treatment and prophylaxis of fractures induced by osteoporosis. An early onset of glucocorticoid therapy markedly delays the loss of motor abilities. TREATMENT ASPECTS An important aspect in the care of DMD patients is the timely prophylaxis and treatment of respiratory insufficiency with regular sessions of breathing therapy, learning breathing and coughing techniques and the sufficiently early start of non-invasive mechanically assisted ventilation. Of similar relevance are also the early recognition and cardioprotective treatment of cardiomyopathy. CONCLUSION The orthopedic surgeon accompanies the patient and family through all stages of the disease and must be appropriately informed on current management and treatment strategies even outside the limits of the personal field of specialization.

Current care strategies for Duchenne muscular dystrophy

BACKGROUND The medical care of patients with Duchenne muscular dystrophy (DMD) is an interdisciplinary and multifaceted task. The vast majority of those affected show a nearly constant course which is reflected in a corresponding stage-oriented treatment concept. Although there is still no causal therapy available for DMD, the course and in particular the quality of life of patients can be decisively improved by established medical practices. THERAPEUTIC STRATEGIES The orthopedic problems of DMD patients include contractures of the upper and lower extremities as well as sitting instability due to progressive scoliosis with pelvic imbalance. The orthopedic treatment incorporates conservative measures, such as physiotherapy, provision of orthotic devices and wheelchairs as well as surgery to resolve contractures of the lower extremities and surgical stabilization of the spine. Furthermore, in these patients orthopedic surgeons and trauma surgeons are confronted with the treatment and prophylaxis of fractures induced by osteoporosis. An early onset of glucocorticoid therapy markedly delays the loss of motor abilities. TREATMENT ASPECTS An important aspect in the care of DMD patients is the timely prophylaxis and treatment of respiratory insufficiency with regular sessions of breathing therapy, learning breathing and coughing techniques and the sufficiently early start of non-invasive mechanically assisted ventilation. Of similar relevance are also the early recognition and cardioprotective treatment of cardiomyopathy. CONCLUSION The orthopedic surgeon accompanies the patient and family through all stages of the disease and must be appropriately informed on current management and treatment strategies even outside the limits of the personal field of specialization.

Spontaneous dissociation in total hip revision arthroplasty at the femoral head–neck interface

Modular designs of hip prosthesis have become increasingly popular in recent years. In several studies, modular head components have been reported to have many advantages, but few complications related to modularity of the femoral component were published. Dissociation of modular THA at the femoral head-neck interface is a rare condition and has been reported most often during attempts of closed reduction of dislocated total hip arthroplasties. We report the case of late detachment of a modular femoral component after revision arthroplasty of the hip and several closed reductions due to recurrent dislocation. Correspondence to: Dr.med.habil.Alexander Schuh, Head of Musculoskeletal Center, Neumarkt Hospital, Teaching Hospital of the University of ErlangenNurenberg, Nürnberger Str. 1292318 Neumarkt i.d. Opf, Germany, Tel: +499181-420-3500; Fax: +49-9181-420-3503; E-mail: Alexander.Schuh@klinikum. neumarkt.de Received: February 02, 2018; Accepted: February 14, 2018; Published: February 19, 2018 Introduction Modular designs of hip prosthesis have become increasingly popular in recent years. In several studies, modular head components have been reported to have many advantages, but few complications related to modularity of the femoral component were published [1,2]. The incidence of postoperative dislocation of modular total hip arthroplasty (THA) varies from 0.5% to 4% [3]. Dissociation of modular THA at the femoral head-neck interface is a rare condition and has been reported most often during attempts of closed reduction of dislocated total hip arthroplasties [2-8]. We report the case of late detachment of a modular femoral component after revision arthroplasty of the hip and several closed reductions due to recurrent dislocation.