Gastrointestinal involvement in neuromuscular disorders.

Although not often discussed, many of the neuromuscular disorders (NMDs) affect the gastrointestinal tract (GIT). Depending on the type of NMD, the prevalence of GIT involvement ranges from <5% (e.g. hereditary neuropathies, myofibrillar myopathies) to 100% (e.g. MNGIE, OPMD). Particularly in NMDs with multisystem affection, involvement of the GIT can dominate the clinical presentation or at least make up a significant part of the clinical picture. The most prominent representatives of NMDs with multisystem involvement are the mitochondrial disorders (MIDs) and the myotonic dystrophies. The best known syndromic MIDs with GIT involvement are MNGIE, MELAS, Leigh, and Pearson syndromes. Among neuropathies, GIT involvement is most commonly found in ALS and GBS. GIT involvement may also be a feature of myasthenia. The clinical manifestations of GIT involvement are diverse and can affect the entire GIT, from the teeth to the rectum, including the liver and pancreas. The most well-known clinical manifestations of GIT involvement are dysphagia, nausea, vomiting, reflux, hollow organ dysmotility, hepatopathy, diabetes, diarrhea, constipation, and fecal incontinence. Even if treatment can usually only be symptomatic, the therapeutic options are diverse, are often effective, and can significantly and beneficially influence the course of the underlying NMD.

Dynamic Standing Exercise using the Innowalk Device in Patients with Genetic and Acquired Motor Impairments.

OBJECTIVE: For individuals with motor impairments, dynamic standing has been proposed as an opportunity for regular daily physical activity. The aim of this study was to analyse patient characteristics, indications, intensity of usage, desired objectives and outcomes of dynamic standing in daily clinical practice in order to form the basis for research regarding this treatment option. SETTING: Data were analysed from standardized questionnaires completed prospectively before supply of a home-based medical device for dynamic standing (Innowalk; Made for Movement GmbH, Langenhagen, Germany) and at the time of individual adaptations. PARTICIPANTS: In a retrospective chart analysis, records of 46 patients (50% cerebral palsy; 50% diverse syndromes) were evaluated. INTERVENTION: The Innowalk had been prescribed for either home-based use (n = 31), in therapeutic institutions (n = 8), or other settings (n = 7). Dynamic standing was performed for 10-30 min as a single session (n = 8) or for 20-60 min 11 [4-21] weeks in 36 patients. RESULTS: Improvements were found for: passive assisted motion (79%), stimulation of intestinal functions (71%), body stability (64%), joint mobility (56%), secure means of allowing supine position (52%), and revision of abnormal motion patterns (48%). CONCLUSION: Thus, this systematic approach shows usage patterns, indications, desired goals and clinical outcome of dynamic standing in daily clinical practice and forms the basis for the design of a prospective, randomized controlled trial.

Best clinical practice in botulinum toxin treatment for children with cerebral palsy.

Botulinum toxin A (BoNT-A) is considered a safe and effective therapy for children with cerebral palsy (CP), especially in the hands of experienced injectors and for the majority of children. Recently, some risks have been noted for children with Gross Motor Classification Scale (GMFCS) of IV and the risks are substantial for level V. Recommendations for treatment with BoNT-A have been published since 1993, with continuous optimisation and development of new treatment concepts. This leads to modifications in the clinical decision making process, indications, injection techniques, assessments, and evaluations. This article summarises the state of the art of BoNT-A treatment in children with CP, based mainly on the literature and expert opinions by an international paediatric orthopaedic user group. BoNT-A is an important part of multimodal management, to support motor development and improve function when the targeted management of spasticity in specific muscle groups is clinically indicated. Individualised assessment and treatment are essential, and should be part of an integrated approach chosen to support the achievement of motor milestones. To this end, goals should be set for both the long term and for each injection cycle. The correct choice of target muscles is also important; not all spastic muscles need to be injected. A more focused approach needs to be established to improve function and motor development, and to prevent adverse compensations and contractures. Furthermore, the timeline of BoNT-A treatment extends from infancy to adulthood, and treatment should take into account the change in indications with age.

Subtalar extra-articular screw arthroereisis (SESA) for the treatment of flexible flatfoot in children.

PURPOSE: The aim of this study was to describe a subtalar extra-articular screw arthroereisis (SESA) technique for the correction of flexible flatfoot (FFF) in children and report the outcome. METHODS: From 1990 to 2012, data were collected on 485 patients who underwent SESA at the San Raffaele Hospital. The average age of the patient cohort was 11.5 ± 1.81 years (range 5.0-17.9 years; median 11.5 years). Inclusion criteria were FFF and marked flexible hindfoot valgus, and the exclusion criterion was rigid flatfoot. SESA was performed in 732 cases of FFF-bilaterally in 247 patients and monolaterally in 238 patients. RESULTS: The values of the pre- and post-SESA weight-bearing X-ray angles were 146° ± 7° and 129° ± 5°, respectively, for the Costa-Bartani angle, 43° ± 8° and 25° ± 6°, respectively, for the talar inclination angle and 11° ± 6° and 14° ± 5°, respectively, for calcaneal pitch (p <0.001). All data were analysed statistically with Student's t test. Data on 398 patients were ultimately available for analysis. In 93.7 % of cases the results were good in terms of improved clinical aspects and X-ray measurement, absence of complications, normal foot function 3 months post-SESA and no requirement for further surgery. The complication rate was 6.3 % and included ankle joint effusion, painful contracture of peroneal muscles and fourth metatarsal bone stress fractures. A sample of 76 patients (121 feet) were evaluated after screw removal, which occurred on average 2.9 years after SESA. The angle measurements of this sample showed no statistically significant modification. CONCLUSION: Based on our >20 years of experience, we believe that SESA is an optimal technique for the correction of FFF as it is simple and can be performed rapidly, and the corrective effect results from the screw's mechanical and proprioceptive effect. The indication for surgery must be accurate. We suggest that the patient be at least 10 years of age in order that all of the foot's growth potential can be utilized and to allow for spontaneous resolution and thereby avoid the possibility of over-treatment.

Seating.

INTRODUCTION: Patients with neuromuscular disorders are not able to adapt their sitting posture continuously. Seating devices, like seating orthoses, braces, seating shells, and custom-made cushions for wheelchairs, however may improve their quality of life by stabilizing their pelvis and trunk. Sitting should be regarded as a dynamic process regulated by motor reactions of trunk and pelvic muscles due to endogenic and exogenic influences. METHODS: Prerequisites for the indication of high-quality and cost effective seating devices are guidelines for planning and fitting which consider both pathomorphologic mechanisms and the patient's personality. In order to avoid functional problems and pain caused by an insufficient seating device it is necessary to pay attention to the exact indication, time, and combination of technical options. Planning within a seating clinic needs teamwork. Primarily the goal of treatment is defined; it depends on the functional deficit, on the daily living activities of the patient, and on the social environmental factors. Secondly, fitting of the devices follows defined treatment guidelines. CONCLUSION: By examination of the sensor and musculoskeletal system, it is possible to classify the patient's sitting or seating ability for simplifying indication: three groups of ACTIVE sitters who are able to change position of trunk and pelvis actively are differentiated from three groups of PASSIVE sitters who have to be seated.

Orthopaedic abnormalities in primary myopathies.

Orthopaedic abnormalities are frequently recognised in patients with myopathy but are hardly systematically reviewed with regard to type of myopathy, type of orthopaedic problem, and orthopaedic management. This review aims to summarize recent findings and current knowledge about orthopaedic abnormalities in these patients, their frequency, and possible therapeutic interventions. A MEDLINE search for the combination of specific terms was carried out and appropriate articles were reviewed for the type of myopathy, types of orthopaedic abnormalities, frequency of orthopaedic abnormalities, and possible therapeutic interventions. Orthopaedic abnormalities in myopathies can be most simply classified according to the anatomical location into those of: the spine, including dropped head, camptocormia, scoliosis, hyperlordosis, hyperkyphosis, or rigid spine; the thorax, including pectus excavatum (cobbler's chest), anterior/posterior flattening, or pectus carinatum (pigeon's chest); the limb girdles, including scapular winging and pelvic deformities; and the extremities, including contractures, hyperlaxity of joints, and hand or foot deformities. These orthopaedic abnormalities can be most frequently found in arthrogryposis, muscular dystrophies, congenital myopathies, myofibrillar myopathies, and myotonic dystrophies. Occasionally, they also occur in metabolic myopathies or other types of myopathy. Most of the orthopaedic abnormalities are sufficiently accessible to conservative or surgical orthopaedic treatment. Orthopaedic abnormalities have major implications in the management and outcome of myopathy patients; they should be closely monitored and treated on time.

Causes of camptocormia.

PURPOSE: To identify and highlight the variable causes of camptocormia. METHOD: Literature review. RESULTS: Camptocormia (bent spine syndrome) is an acquired postural disease characterised by forward flexion of the thoraco-lumbar spine. Camptocormia leads to lumbar kyphosis and increases during walking or standing and completely disappears in supine position. Camptocormia is multicausal due to central or peripheral nervous system disease, idiopathic or due to some rare conditions. Camptocormia is most frequently associated with Parkinson's disease. Other causes include dystonia, multisystem atrophy, Alzheimer's disease, myopathy, motor neuron disease, myasthenia or chronic inflammatory demyelinating polyneuropathy. Rare causes include adverse reactions of drugs, disc herniation, arthritis, spinal trauma, paraneoplastic disorder, or psychiatric disease (more rarely than previously thought). Camptocormia is diagnosed upon clinical investigations, imaging of the cerebrum or spine, electromyography or muscle biopsy. Treatment is limited on supportive conservative measures, to withdrawal of causative drugs, electroconvulsive therapy, surgical correction or deep brain stimulation and effective only in single patients. CONCLUSIONS: Camptocormia is organic in the vast majority of the cases due to neurological disease, or rarely drugs, trauma, orthopedic abnormalities or idiopathic.

Presentation, etiology, diagnosis, and management of camptocormia.

Camptocormia (bent spine syndrome, cyphose hystérique) is an abnormality characterized by severe forward flexion of the thoracolumbar spine which typically increases during walking or standing and completely disappears in supine position. Camptocormia can be due to central nervous system diseases, such as Parkinson's disease, dystonia, multisystem atrophy, or Alzheimer's disease, due to peripheral nervous system diseases, such as primary myopathy, secondary myopathy, motor neuron disease, myasthenia, or chronic inflammatory demyelinating polyneuropathy, due to side effects of drug treatment, due to disc herniation, arthritis or spinal trauma, or due to paraneoplasia. Only rarely may camptocormia be attributable to psychiatric disease. The diagnosis is based on clinical findings, imaging of the cerebrum or spine, needle electromyography, or muscle biopsy. Treatment options are limited and frequently futile and rely on conservative measures, such as psychotherapy, physiotherapy, use of orthoses, drugs, injection of botulinum toxin, withdrawal of causative drugs, electroconvulsive therapy, or invasive measures, such as surgical correction or deep brain stimulation. The outcome is generally fair. Some patients profit from therapy whereas others do not respond to treatment and become progressively immobile.

Neurogenic hip dislocation in cerebral palsy: quality of life and results after hip reconstruction.

BACKGROUND: At birth, no difference exists between the hips of children with spastic cerebral palsy and the hips of other children. The typical pathologic deformities of the hips in children with spastic cerebral palsy develop as the child gets older. One of our goals was to evaluate the change in quality of life of children with cerebral palsy after hip reconstruction. For classification of the children's condition, we assessed sitting and standing abilities and used the Gross Motor Function Classification System. To evaluate the effect of hip dislocation on the spine, we assessed symmetry while the patient was lying down, sitting, and standing. METHODS: The results of surgical reconstruction of hip joints in 54 patients with severe cerebral palsy who had 66 severely subluxated or dislocated hip joints were retrospectively analyzed. The study was based on a research questionnaire with a mean follow-up of 4 years 10 months. The purpose of the questionnaire was to evaluate the pain, functional abilities, symmetry, and independence of the patients by using the modified Barthel index. RESULTS: Pain was fully relieved in 62 and was eased in 35% of preoperatively painful hips. The functional abilities of sitting and standing were not influenced statistically significantly by the operation. An improvement in sitting symmetry was observed in 40% and improvement in lying symmetry was observed in 32% of the patients. The mean center-edge angle improved from -24.9 degrees +/- 39 degrees (mean +/- standard deviation) to 25.9 degrees +/- 14 degrees . The acetabular index improved from 30.2 degrees +/- 8 degrees to 17.1 degrees +/- 7 degrees . CONCLUSIONS: The independence of the patients, based on the modified Barthel index, did not change significantly after surgery. Most improvements in quality of life were observed in those patients who had pain in the hip before the operation as a result of reduction of pain and improved mobility of the hip.