Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with deflazacort. Mean length of treatment was 66 months. Treated boys stopped walking at 11.5 +/- 1.9 years, compared with 9.6 +/- 1.4 years for untreated boys. Cardiac function was better preserved with the use of deflazacort, as shown by a normal shortening fraction in treated (30.8 +/- 4.5%) vs untreated boys (26.6 +/- 5.7%, P < 0.05), a higher ejection fraction (52.9 +/- 6.3% treated vs 46 +/- 10% untreated), and lower frequency of dilated cardiomyopathy (32% treated vs 58% untreated). Scoliosis was much less severe in treated (14 +/- 2.5 degrees ) than in untreated boys (46 +/- 24 degrees ). No spinal surgery was necessary in treated boys. Limb fractures were similarly frequent in treated (24%) and untreated (26%) boys, but vertebral fractures occurred only in the treated group (7/37) (compared with zero for the untreated group). In both groups, body weight excess tripled between the ages of 8 and 12 years. All untreated patients grew normally (>4 cm/year), as opposed to only 15% of treated boys. Deflazacort improves cardiac function, prolongs walking, and seems to eliminate the need for spinal surgery, although vertebral fractures and stunted growth occur. The overall impact on quality of life appears positive.
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PMID:Deflazacort use in Duchenne muscular dystrophy: an 8-year follow-up. 1827 56

The main goal in the treatment of Duchenne muscular dystrophy (DMD) is to maintain ambulation for as long as possible and to anticipate and manage the associated complications, such as joint contractures, scoliosis, cardiomyopathy, respiratory insufficiency, and weight gain. Cognitive and behavioral symptoms occur in about one third of patients, and it is important to recognize and manage them promptly, developing an individualized plan at school and at home to maximize the patient's cognitive abilities. In the late phase of the disease, palliative care is of paramount importance. Corticosteroid therapy (prednisone and deflazacort) is the only effective pharmacologic treatment for DMD. Daily prednisone treatment increases muscle strength and function, improves pulmonary function, and significantly slows the progression of weakness. Deflazacort has a similar effect on muscle strength, but it is not available in the United States. Treatment with corticosteroid should be offered to all patients with DMD, but the beneficial effects and potential adverse effects should be fully discussed before treatment begins. The optimal dose of prednisone is 0.75 mg/kg per day, up to a maximum of 40 mg/d. If adverse effects occur, a decrease in dosage is appropriate. Monitoring of muscle function and adverse effects by a neurologist or neuromuscular specialist is strongly recommended. Physical and occupational therapists should be involved early in the treatment of patients with DMD to develop a program that includes heel cord stretching and exercise. In the later phases, these therapists can recommend adaptive equipment and maximize independence. Orthopedic consultation is important in monitoring and managing scoliosis and joint contractures in the nonambulatory phase of the disease. Pulmonary evaluation for ventilatory care is important; pulmonary consultation is essential when vital capacity declines. The use of assistive cough devices, nasal bilevel positive airway pressure, and tracheostomy must be discussed with patients and their families. For all patients with DMD, particularly those receiving prednisone, consultation with a dietitian is very helpful to control weight and maintain a healthy diet.
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PMID:Treatment options for Duchenne muscular dystrophy. 1833 31

Duchenne muscular dystrophy (DMD) is familiar to paediatricians as the most common childhood muscular dystrophy and leads to severe disability and early death in the late teenage years if untreated. Improvements in general care, glucocorticoid corticosteroid treatment, non-invasive ventilatory support, and cardiomyopathy and scoliosis management have significantly changed the course of DMD in treated individuals, so that survival into adulthood is now a realistic possibility for most patients. This has important implications for the medical and social sectors involved in the transition to adult medical services and the provision of suitable employment and social care. Multidisciplinary team working for optimal management of DMD-specific multisystem complications is essential, and collaboration in disease specific national clinical networks is recommended. Several curative therapeutic strategies including cell and gene therapy are being pursued but are still at an experimental stage.
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PMID:Update on the management of Duchenne muscular dystrophy. 1866 51

Joint contractures, subluxation and dislocation are common problem in children with neuromuscular disorders. Medical, surgical and rehabilitative approaches can be used to maintain patient function and comfort. Contracture release, hip dysplasia correction and procedures to address or prevent hip subluxation or dislocation, are not always necessary since patients can be asymptomatic and surgical treatment will not always be successful in maintaining a reduced hip. In fact, controversy surrounds the management of hip disorder in children with Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita. Patients with neuromuscular disorders also frequently develop a progressive scoliosis with pelvic obliquity which may affect sitting balance and become painful. Most subluxations and dislocations have the tendency to occur on the high side of a tilted pelvis. Spinal stabilisation is sometimes necessary to improve the pelvic tilt and to prevent further increase. The present article provides an overview of the current strategies of hip management in neuromuscular disorders.
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PMID:Strategies of hip management in neuromuscular disorders: Duchenne Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth Disease and Arthrogryposis Multiplex Congenita. 1930 47

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 degrees (range, 81 degrees-130 degrees). 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 degrees (range, 20 degrees-40 degrees) (65%). FVC remained stable at six weeks after operation. FVC decreased to 19.8% (range, 16-25%) and the mean scoliosis was 35 degrees (range, 23 degrees-40 degrees) (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.
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PMID:Surgical management of severe scoliosis with high-risk pulmonary dysfunction in Duchenne muscular dystrophy. 1934 Apr 26

A total of 36 consecutive nonambulatory DMD patients underwent scoliosis surgery. Patients were divided into two groups: the autogenous iliac crest bone graft group (the ICBG group; 20 patients) and the allogenous bone graft group (the ALBG group; 16 patients). The mean preoperative curves measured 87 degrees and 31 degrees at the last follow-up in the ICBG group and 83 degrees and 28 degrees in the ALBG group. In the ICBG group, three (15%) patients had intraoperative sacroiliac joint penetration, five (25%) had iliac crest inner cortex penetration and three (15%) had postoperative prolonged wound drainage at the donor site. At three months after surgery, donor site pain caused by bone harvest was found in 50% with severe pain limiting their physical function and causing difficulties in sitting in a wheelchair in 40% of the patients, whereas patients in the ALBG group returned to their preoperative level of function soon after surgery.
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PMID:Autogenous iliac crest bone graft versus banked allograft bone in scoliosis surgery in patients with Duchenne muscular dystrophy. 1953 24

Background. Duchenne muscular dystrophy (DMD) patients used to die mainly from pulmonary problems. However, as advances in respiratory care increase life expectancy, mortality due to cardiomyopathy rises. Echocardiography remains the standard diagnostic modality for cardiomyopathy in DMD patients, but is hampered by scoliosis and poor echocardiographic acoustic windows in adult DMD patients. Multigated cardiac radionuclide ventriculography (MUGA) does not suffer from these limitations. N-terminal proBNP (NTproBNP) has shown to be a diagnostic factor for heart failure. We present our initial experience with plasma NT-proBNP measurement in the routine screening and diagnosis of cardiomyopathy in adult mechanically ventilated DMD patients.Methods. Retrospective study, 13 patients. Echocardiography classified left ventricular (LV) function as preserved or depressed. NT-proBNP was determined using immunoassay. LV ejection fraction (LVEF) was determined using MUGA.Results. Median (range) NT-proBNP was 73 (25 to 463) ng/l. Six patients had an NT-proBNP >125 ng/l. Seven patients showed an LVEF <45% on MUGA. DMD patients with depressed LV function (n=4) as assessed by echocardiography had significantly higher median NT-proBNP than those (n=9) with preserved LV function: 346 (266 to 463) ng/l versus 69 (25 to 257) ng/l (p=0.003). NT-proBNP significantly correlated with depressed LV function on echocardiogram and with LVEF determined by MUGA.Conclusion. Although image quality of MUGA is superior to echocardiography, the combination of echocardiography and NT-proBNP achieves similar results in the evaluation of left ventricular function and is less time consuming and burdensome for our patients. We advise to add NT-proBNP to echocardiography in the routine cardiac assessment of DMD patients. (Neth Heart J 2009;17:232-7.).
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PMID:Cardiac assessment of patients with late stage Duchenne muscular dystrophy. 1978 85

Literature has described treatment of flaccid neuromuscular scoliosis using different instrumentation; however, only one article has been published using posterior-only pedicle screw fixation. Complications using pedicle screws in paralytic neuromuscular scoliosis has not been described before. To present results and complications with posterior-only pedicle screws, a retrospective study was carried out in 27 consecutive patients with flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy), who were operated between 2002 and 2006 using posterior-only pedicle screw instrumentation. Immediate postoperative and final follow-up results were compared using t test for Cobb angle, pelvic obliquity, thoracic kyphosis and lumbar lordosis. Perioperative and postoperative complications were noted from the hospital records of each patient. Complications, not described in literature, were discussed in detail. Average follow-up was 32.2 months. Preoperative, immediate postoperative and final follow-up Cobb angle were 79.8 degrees , 30.2 degrees (63.3% correction, p < 0.0001) and 31.9 degrees , respectively; and pelvic obliquity was 18.3 degrees , 8.9 degrees (52% correction, p < 0.0001) and 8.9 degrees . Postoperative thoracic kyphosis remained unchanged from 27.6 degrees to 19.9 degrees (p = 0.376); while lumbar lordosis improved significantly from +15.6 degrees to -22.4 degrees lordosis (p = 0.0002). Most patients had major to moderate improvement in postoperative functional and ambulatory status compared to the preoperative status. Thirteen (48.1%) perioperative complications were noted with five major complications (four respiratory in the form of hemothorax or respiratory failure that required ventilator support and one death) and eight minor complications (three UTI, two atelectasis, two neurological and one ileus). Postoperatively, we noted complications, such as coccygodynia with subluxation in 7, back sore on the convex side in 4 and dislodging of rod distally in 1 patient making a total of 12 (44.4%) postoperative complications. Of 12 postoperative complications, 6 (50%) required secondary procedure. We conclude that although flaccid neuromuscular scoliosis can be well corrected with posterior-only pedicle screw, there is a high rate of associated complications.
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PMID:Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation. 1988 87

In a previous study, the authors reported the clinical and radiological results of Duchenne muscular dystrophy (DMD) scoliosis surgery in 14 patients with a low FVC of <30%. The purpose of this study was to determine if surgery improved function and QOL in these patients. Furthermore, the authors assessed the patients' and parents' satisfaction. %FVC increased in all patients after preoperative inspiratory muscle training. Scoliosis surgery in this group of patients presented no increased risk of major complications. All-screw constructions and fusion offered the ability to correct spinal deformity in the coronal and pelvic obliquity initially, intermediate and long-term. All patients were encouraged to continue inspiratory muscle training after surgery. The mean rate of %FVC decline after surgery was 3.6% per year. Most patients and parents believed scoliosis surgery improved their function, sitting balance and quality of life even though patients were at high risk for major complications. Their satisfaction was also high.
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PMID:Surgical management of severe scoliosis with high risk pulmonary dysfunction in Duchenne muscular dystrophy: patient function, quality of life and satisfaction. 2015 95

Instrumentation and fusion to the sacrum/pelvis has been a mainstay in the surgical treatment of scoliosis in Duchenne muscular dystrophy (DMD) and is recommended to correct pelvic obliquity. The caudal extent of instrumentation and fusion in the surgical treatment of scoliosis in DMD has remained a matter of considerable debate, and there have been few studies on the use of segmental pedicle screw instrumentation for this pathology. From 2004 to 2007, a total of 28 patients with DMD underwent segmental pedicle screw instrumentation and fusion only to L5. Assessment was performed clinically and with radiologic measurements. All patients had a curve with the apex at L2 or higher preoperatively. Preoperative coronal curve averaged 74 degrees, with a postoperative mean of 14 degrees, and 17 degrees at the last follow-up. The pelvic obliquity improved from 17 degrees preoperatively to 6 degrees postoperatively, and 6 degrees at the last follow-up. Good sagittal plane alignment was recreated after surgery and maintained long term. In 23 patients with a preoperative L5 tilt of less than 15 degrees, the pelvic obliquity was effectively corrected to less than 10 degrees and maintained by adequately addressing spinal deformity, while five patients with a preoperative L5 tilt of more than 15 degrees had a postoperative pelvic obliquity of more than 15 degrees. Segmental pedicle screw instrumentation and fusion to L5 was effective and safe in patients with DMD scoliosis with a minimal L5 tilt (<15 degrees) and a curve with the apex at L2 or higher, both initially and long term, obviating the need for fixation to the sacrum/pelvis. Segmental pedicle screw instrumentation and fusion to L5 was safe and effective in patients with DMD scoliosis with stable L5/S1 articulation as evidenced by a minimal L5 tilt of less than 15 degrees, even though pelvic obliquity was significant. There was no major complication. With rigid segmental pedicle screw instrumentation, the caudal extent of fusion in the treatment of DMD scoliosis should be determined by the degree of L5 tilt. This method in appropriate patients can be a viable alternative to instrumentation and fusion to the sacrum/pelvis in the surgical treatment of DMD scoliosis.
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PMID:Can the caudal extent of fusion in the surgical treatment of scoliosis in Duchenne muscular dystrophy be stopped at lumbar 5? 2021 96


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