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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multicore myopathy is a rare congenital myopathy. The multicores consist of numerous small areas of decreased oxidative enzyme activity. The long axis of the lesion is perpendicular or parallel to the long axis of the muscle fiber. These cores are usually smaller than central cores. For this reason they are also called minicores. Although the multicores represent a nonspecific change in that they can be observed in malignant hyperthermia, muscular dystrophy, inflammatory myopathy, etc. Muscular weakness dating from early infancy is combined large proportion of the muscle fibers. In about half of the reported cases the muscular weakness has not been progressive, while in the others a slow progression has occurred. This 9-year-old boy presented with congenital nonprogressive myopathy associated with thoracic scoliosis and bilateral equinovarus deformity. The serum creatine phosphokinase and lactic dehydrogenase levels were normal. Electromyography showed "myopathic" features. The biopsy revealed a marked size variation in myofibers, ranging from 10 microns to 100 microns. A few small angular fibers and slight endomyseal fibrosis were also noted. There was type I fiber predominance. NADH-TR reaction disclosed more well-defined cores with loss of intermyofibrillary mitochondrial activity. These cores were usually located with loss of intermyofibrillary mitochondrial activity. These cores were usually located in the peripheral portions of the myofibers and the core size measured 10-30 microns in diameter. Electron microscopic examination revealed circumscribed areas of disintegrated Z band material and disorganized sarcomeric units near the sarcolemma. A decrease in the number of mitochondria and glycogen particles was noted.
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PMID:Multicore myopathy--a case report. 819 69

The authors analyzed lateral deviation, anteroposterior deformity, and rotation of the spinal column of 11 patients with scoliosis associated with cerebral palsy (CP) and 11 patients with progressive muscular dystrophy (PMD). There was a correlation between the magnitude of Cobb angle and that of the vertebral rotation in scoliosis associated with both CP and PMD, but the ratio of spinal rotation to Cobb angle in the former was lower than that in the latter. The magnitudes of thoracic kyphosis and of lumbar lordosis were not correlated with Cobb angle in either group, but the sagittal plane deformity in the CP patients was less severe than that in the PMD patients, and the latter demonstrated kyphosis of the lumbar spine and lordosis of the thoracic spine.
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PMID:Three-dimensional spinal deformity in scoliosis associated with cerebral palsy and with progressive muscular dystrophy. 827 49

The Women's and Children's Hospital experience with Luque spinal fusion in Duchenne's muscular dystrophy was reviewed from its commencement in 1983 to the present with a view to assessing the clinical and radiologic outcome and safety of the procedure. Seventeen boys have undergone spinal fusion. L-rod instrumentation was used in 10, six of whom had significant problems with sitting imbalance or progression of the scoliosis or both. In seven cases, distal instrumentation was taken to the pelvis with a Galveston construct and rigid crosslinking. Apart from some progression and sitting imbalance in the L-rod group, there were few complications. In the Galveston group, pelvic obliquity was corrected by a mean of 63%, and there was better maintenance of correction. There were no pseudoarthroses or instrument failures in the Galveston group. Of the total group, four patients had forced vital capacity (FVC) values < 25% predicted, and two required ventilation postoperative (< 48 h). There were no other respiratory complications. The effect of surgery on respiratory function remains uncertain. Spinal fusion with the Luque rod construct and pelvic fixation is a safe procedure. It provided a mean correction of 60% and control of pelvic obliquity without significant postoperative deterioration. In our experience, surgery can be safely performed with FVC value down to 20% predicted. On the basis of these data, one current practice is to instrument to the pelvis with a Galveston construct and Texas Scottish Rite Hospital cross-linking.
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PMID:Spinal fusion in Duchenne's muscular dystrophy. 872 31

Patients with Duchenne's muscular dystrophy often develop progressive scoliosis. Should spinal stabilization be necessary, these patients are considered at high risk for surgically related complications. This retrospective study of 30 patients with Duchenne's examined the prevalence and types of complications associated with posterior spinal fusion and determined the percentage of patients who lived > or = 2 years beyond surgery. Major complications related to cardiopulmonary compromise, infection, or hardware complications occurred in 27%, and minor complications occurred in another 16%. Seventy-seven percent of the patients lived > or = 2 years beyond their surgery. The majority of patients and their families, including half of those who had major complications, reported that surgery resulted in an improvement in their quality of life. Although complications are common, the benefits realized by the patient with Duchenne's muscular dystrophy with scoliosis reinforce the importance of surgical stabilization.
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PMID:Complications after posterior spinal fusion in Duchenne's muscular dystrophy. 898 12

Nineteen patients with Duchenne's muscular dystrophy underwent segmental spinal instrumentation and posterior fusion between 1989 and 1994. The indication for surgery was loss of the ability to walk and development of scoliosis with sitting discomfort. Preoperative assessment included evaluation of pulmonary function. Average age at operation was 12.5 years. Instrumentation and fusion extended from upper thoracic levels to L-5 or the sacrum. A Hartshill rectangle was used in all cases, with banked allograft bone. Severe intraoperative blood loss was avoided by use of hypotensive anaesthesia. Peroperatively, systolic blood pressure was maintained between 75 and 85 mm Hg. Average blood loss was 1,246 ml (range, 400-3,100) or 30% of estimated total blood volume. Average transfusion requirements were 3 units of packed cells. Postoperative analgesia was provided by infusion via an epidural catheter. There were no postoperative wound or chest infections. Three patients required catheterisation for urinary retention. Postoperatively patients were fitted with a Neofract jacket to allow early mobilisation and discharge. Mean postoperative length of stay was 16 days. Posterior spinal fusion by using the Hartshill rectangle provided good correction and fixation. Hypotensive anaesthesia permitted surgery to be performed rapidly in a relatively dry field and avoided the complications of severe intraoperative blood loss and massive transfusion.
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PMID:Spinal instrumentation for Duchenne's muscular dystrophy: experience of hypotensive anaesthesia to minimise blood loss. 959 68

In many cases, the orthopedic surgeon may be the first consultant requested to assess complaints of lower extremity weakness or deformity to result from such conditions and must remain alert to the primary diagnosis. In addition, the orthopedic surgeon should be prepared to guide appropriate physical therapy, prescribe orthotics, and perform surgery to improve function, prevent deformity, or provide comfort when necessary. Most deformities of the extremities result from a combination of muscle weakness and imbalance, and surgical procedures are aimed at correcting existing deformity and rebalancing existing musculature by release or transfer. Skeletally immature patients with neuromuscular disorders are also susceptible to the development of scoliosis, which may impair comfortable sitting or already compromised pulmonary function. This article reviews the clinical manifestation and orthopedic management of Duchenne's muscular dystrophy, spinal muscular atrophy, facioscapulohumeral dystrophy, and Charcot-Marie-Tooth disease.
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PMID:Orthopedic management of neuromuscular disorders in children. 966 Dec 42

Neuromuscular scoliosis can be a problem in children with underlying neuromuscular conditions such as cerebral palsy, spina bifida, and muscular dystrophy. A comprehensive preoperative assessment is essential to provide comprehensive postoperative care. Surgical procedures to correct neuromuscular scoliosis include anterior spinal fusion, posterior spinal fusion, or a combined anterior-posterior spinal fusion. Postoperative problems can include respiratory failure, hemodynamic instability, neurovascular compromise, and pain control. With an understanding of the developmental status of these patients, pediatric patients can be safely managed in an adult ICU.
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PMID:Neuromuscular scoliosis: a case of the pediatric patient in the adult ICU. 973 30

Neuromuscular scoliosis is classified as a neuropathic or myopathic type. Cerebral palsy is the most common form of neuropathic type, and Duchenne's muscular dystrophy best characterizes the principles and recommended treatment for the myopathic type. Nonoperative measures rarely fully control a progressive scoliosis. Careful preoperative planning and surgery can achieve a well-balanced spine over a level pelvis with a good functional result.
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PMID:Management of neuromuscular scoliosis. 1039 65

Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally associated with stable or only slowly progressive weakness and early respiratory insufficiency. Recently, the first locus for congenital muscular dystrophy in association with rigid spine syndrome was mapped to chromosome 1p35-p36 in consanguineous Moroccan, Turkish, and Iranian families. We present here a detailed phenotypic description of the familial syndrome linked to this locus, describing 4 siblings (3 boys and 1 girl) of Northern European-American heritage who are the offspring of a nonconsanguineous marriage. All 4 siblings were affected by hypotonia and prominent neck weakness in infancy, early spinal rigidity, and early scoliosis. After initial improvement, muscle strength stabilizes or slowly declines, and skeletal deformities and respiratory insufficiency supervene. Muscle biopsy in an affected child at age 9 months revealed minimal, nonspecific myopathic changes, leading to a diagnosis of "minimal change myopathy." Muscle biopsy in his sibling, at the age of 14 years, revealed chronic and severe myopathic (dystrophic) changes, with normal staining for laminin-2 and for proteins of the dystrophin-glycoprotein complex. A possible explanation for these biopsy findings is that magnetic resonance imaging of the thighs reveals stereotyped selective muscle involvement, with the selectivity more pronounced early in the disease course followed by widespread muscular signal abnormalities in the late stages of the disease. In this family, linkage to the chromosome 1p rigid spine syndrome locus (RSMD1) is supported by maximum LOD scores for several markers of 1.81 at theta = 0, representing the maximum statistical power possible for this family. In combination with the previous report, this syndrome is linked to the RSMD1 locus with a summated maximum LOD score of 6.29, and analysis of recombination events in our family narrows the previously reported RSMD1 locus to 3 centiMorgans.
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PMID:Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. 1066 83

We have treated 101 patients with scoliosis secondary to muscular dystrophy over a 13-year period; 64 had Duchenne's muscular dystrophy, 33 spinal muscular atrophy and four congenital muscular dystrophy. The patients underwent a modified Luque (87) or Harrington-Luque instrumentation (14) combined with a limited Moe fusion in all except 27 cases. A mean of 13 levels was instrumented. The mean preoperative sitting Cobb angle was 84 degrees (10 to 150) and the mean postoperative angle 40 degrees (52% correction). Most patients (96%) were able to discard their braces and there was a high level of patient satisfaction (89.6%). Less correction was seen for severe curves, and there was a greater recurrence of postoperative pelvic tilt in those patients not instrumented to the sacrum. Although the incidence of minor or temporary complications was high, these occurred chiefly in the early high-risk patients with very severe curves and considerable pre-existing immobility.
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PMID:The treatment of scoliosis in muscular dystrophy using modified Luque and Harrington-Luque instrumentation. 1124 32


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