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

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

The treatment of respiratory failure in patients who have NMD continues to be an evolving process. Negative-pressure ventilation, once prominent in the 1940s and 1950s, gave way to intermittent positive-pressure ventilation with tracheostomy or endotracheal tubes in the 1960s. Now there is a resurgence of noninvasive ventilation, brought about by innovative modes of positive pressure delivered through nasal and facial masks. Although frequently relegated to second-line choices, negative-pressure devices still offer a practical treatment alternative as patient preference still plays a role in selecting a proper mode of ventilation. Studies have shown that noninvasive ventilation can prevent or reverse respiratory failure and improve quality of life and longevity. Despite the seemingly widespread acceptance of noninvasive ventilation in the treatment of respiratory failure, physicians still appear reluctant to use ventilatory assistance in the neuromuscular arena. In 1985, a survey found that respiratory support systems were utilized routinely in only 33% of the 132 responding Muscular Dystrophy Association (MDA) clinics. Bach recently surveyed 273 MDA clinic directors and co-directors from 167 clinics, to evaluate their current use of mechanical ventilation. Ventilatory assistance was recommended and used electively in only 43 (26%) of the 167 clinics. Furthermore, it was the policy in 68 of the clinics to discourage the use of mechanical ventilation. Even more importantly, only 2 physicians who discouraged the use of mechanical ventilation were familiar with the newest noninvasive methods of ventilatory support. Sadly, although our methodologies in the treatment of respiratory failure continue to improve, physician practice has lagged behind. Physicians who treat patients who have NMD need to become cognizant of these new techniques and incorporate them into their present therapeutic armamentarium.
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PMID:Noninvasive ventilation in neuromuscular disease. 989 37

Progressive muscular dystrophy patients often show progressive body weight loss in early adolescence. This severe body weight loss frequently causes superior mesenteric artery syndrome which may result in a fatal outcome. We performed prandial pulse oximetry and found 12 out of 35 Duchenne muscular dystrophy patients, 1 out of 2 Becker muscular dystrophy patients and 1 out of 3 Limb-Girdle muscular dystrophy patients showed prandial hypoxia with tachycardia. The patients became tired and eating habits were easily interrupted resulting in progressive body weight loss. Nasal administration of 0.2L/min oxygen to 2 Duchenne muscular dystrophy patients, and nasal intermittent positive pressure ventilation to 2 Duchenne muscular dystrophy patients, 1 Becker muscular dystrophy patient and 1 Limb-Girdle muscular dystrophy patient for 15-30 minutes before eating improved the prandial hypoxia and halted the progression of body weight loss. This prandial hypoxia is one of the earliest signs of respiratory failure in progressive muscular dystrophy.
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PMID:[Prandial hypoxia in progressive muscular dystrophy]. 1039 69

Alveolar hypoventilation associated with neuromuscular disease can occur in acute and chronic forms. In the acute form, progressive weakness of respiratory muscles leads to rapid reduction in vital capacity followed by respiratory failure with hypoxemia and hypercarbia. Symptoms are those of acute respiratory failure, including dyspnea, tachypnea, and tachycardia. In the chronic form, impairment of the respiratory muscles affects mechanical properties of the lungs and chest wall, decreases the ability to clear secretions, and eventually may alter the function of the central respiratory centers. Symptoms include orthopnea, fatigue, disturbed sleep, and hypersomnolence. Treatment and outcome of the disease's chronic form are dependent on the underlying clinical cause of the alveolar hypoventilation. For chronic but stable diseases such as old polio, quadriplegia, or kyposcoliosis, mechanical support of minute ventilation can reverse symptoms. For chronic and progressive disease such as muscular dystrophy and amyotrophic lateral sclerosis, mechanical support of minute ventilation provides only symptomatic relief and is usually associated with deterioration to the point of complete ventilator dependency for survival. For the chronic progressive forms of alveolar hypoventilation, there is currently a need for quality randomized controlled clinical trials to define physiologic indicators and appropriate timing for mechanical support of minute ventilation.
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PMID:Neuromuscular disease and hypoventilation. 1057 Jul 36

The development of positive pressure ventilation delivered through a nasal or face mask has greatly expanded the use of non-invasive ventilation in patients with chronic respiratory insufficiency, particularly during sleep. Disorders ranging from neurologic and neuromuscular, such as polio and muscular dystrophy, central alveolar hypoventilation, thoracic cage disorders such as kyphoscoliosis, and pulmonary disorders such as COPD, particularly of the blue-bloater type. The relative hypoventilation that is common to each condition is due to varying combinations of an inadequate respiratory drive and an increase in the work of breathing. Previous studies have shown sustained reversal of awake hypercapnia in patients with alveolar hypoventilation syndrome using nocturnal NIPPV. We analysed 10 consecutive patients with chronic respiratory insufficiency due to diverse aetiologies over a period of time using long-term domiciliary nocturnal NIPPV. Awake hypercapnia and hypoxaemia improved in nine patients over time and deteriorated in one patient. There was no significant change in pulmonary function apart from one patient with progressive muscular dystrophy who deteriorated. A considerable reduction in the need for subsequent hospital admission was noted in the group as a whole following institution of NIPPV. We conclude that nocturnal NIPPV improves awake gas exchange in patients with chronic respiratory failure.
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PMID:Nocturnal nasal intermittent positive pressure ventilation (NIPPV) therapy for chronic respiratory failure: long-term effects. 1059 22

We report a male autopsy case of Fukuyama-type congenital muscular dystrophy (FCMD), with unusual neuropathological findings. The patient was a Japanese man aged 26 years at the time of death. He had shown severe psychomotor retardation and muscular dystrophy since early infancy, and was diagnosed as having FCMD at the age of 5 years. He died of respiratory failure. The main neuropathological finding was extensive cerebral and cerebellar cortical dysplasia, characteristic of this disorder. In addition, degeneration of the cerebellar efferent pathway, including the dentate nucleus, superior cerebellar peduncle, and red nucleus, and that of the lateral thalamic nucleus were observed. These findings suggest the possibility that the long survival can clarify the latent neurodegeneration in the cerebellum and thalamus in FCMD, in addition to congenital malformations. The system degeneration should be carefully evaluated in the pathological examination of this disorder.
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PMID:The cerebellar and thalamic degeneration in Fukuyama-type congenital muscular dystrophy. 1067 29

We have previously reported an autosomal recessive form of congenital muscular dystrophy, characterized by proximal girdle weakness, generalized muscle hypertrophy, rigidity of the spine, and contractures of the tendo Achilles, in a consanguineous family from the United Arab Emirates. Early respiratory failure resulting from severe diaphragmatic involvement was present. Intellect and the results of brain imaging were normal. Serum creatine kinase levels were grossly elevated, and muscle-biopsy samples showed dystrophic changes. The expression of the laminin-alpha2 chain of merosin was reduced on several fibers, but linkage analysis excluded the LAMA2 locus on chromosome 6q22-23. Here, we report the results of genomewide linkage analysis of this family, by use of homozygosity mapping. In all four affected children, an identical homozygous region was identified on chromosome 1q42, spanning 6-15 cM between flanking markers D1S2860 and D1S2800. We have identified a second German family with two affected children having similar clinical and histopathological features; they are consistent with linkage to the same locus. The cumulative LOD score was 3.57 (straight theta=.00) at marker D1S213. This represents a novel locus for congenital muscular dystrophy. We suggest calling this disorder "CMD1B." The expression of three functional candidate genes in the CMD1B critical region was investigated, and no detectable changes in their level of expression were observed. The secondary reduction in laminin-alpha2 chain in these families suggests that the primary genetic defect resides in a gene coding for a protein involved in basal lamina assembly.
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PMID:Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. 1067 2

We evaluated the expression of a select panel of growth factors and their receptors, including fibroblast growth factor 1 (FGF-1), fibroblast growth factor 2 (FGF-2), platelet-derived growth factor (PDGF), FGF receptor 1 (FGF-R1), FGF receptor 3 (FGF-R3), FGF receptor 4 (FGF-R4), PDGF receptor alpha (PDGF-Ralpha), PDGF receptor beta (PDGF-Rbeta), and heparan sulfate proteoglycan (HSPG), in muscle biopsy specimens from nine facioscapulohumeral muscular dystrophy (FSHD) patients using immunohistochemistry. Two cases of Duchenne-type muscular dystrophy (DMD), two of Becker-type muscular dystrophy (BMD), and one of limb-girdle-type muscular dystrophy (LGMD) were also investigated. Widespread immunostaining for FGF-1 and FGF-2 on the sarcolemma and overexpression of FGF-R4 in endomysial and perimysial connective tissue were seen in one patient with a severe clinical phenotype of FSHD who had respiratory failure. Standard histochemistry in this patient revealed marked interstitial fibrosis and lobulated fibers. The overexpression of FGF and FGF-R4 in this severe FSHD case may be associated with the muscle fibrosis and disease severity.
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PMID:An overexpression of fibroblast growth factor (FGF) and FGF receptor 4 in a severe clinical phenotype of facioscapulohumeral muscular dystrophy. 1071 58

We present four subjects from one family and one subject (with an affected sibling who had died) from a second, unrelated family, with early onset, Duchenne-like, muscular dystrophy who presented with proximal girdle weakness, calf and generalized muscle hypertrophy, selective wasting of the sternomastoid muscles, rigidity of the spine and contractures of the tendo Achilles. Intellect was normal. Serum creatine kinase was grossly elevated and the muscle biopsies showed a dystrophic picture. All five subjects have developed early respiratory failure due to severe diaphragmatic involvement; two have already died aged 4 and 7 years of age and the remaining three are dependent on night time ventilation. There has been very little deterioration over time in the skeletal muscle function, and the survivors remain ambulant, the oldest being 11 years. Immunocytochemical studies of the muscle biopsy showed a normal pattern for dystrophin and the dystrophin-associated glycoproteins, but a reduction of the laminin alpha2 chain of merosin. Magnetic resonance imaging of the brain was normal. The disease did not link to the LAMA2 locus for laminin alpha2 on chromosome 6q, so that these families seem to represent a new form of autosomal recessive muscular dystrophy with a secondary merosin deficiency. The primary protein deficiency has not yet been identified.
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PMID:An early onset muscular dystrophy with diaphragmatic involvement, early respiratory failure and secondary alpha2 laminin deficiency unlinked to the LAMA2 locus on 6q22. 1072 42

Non invasive mechanical ventilation represents all the techniques of mechanical ventilation not using endotracheal connection to the respirator. Non invasive mechanical ventilation is essentially represented nowadays by facial (generally used for acute respiratory failure) and nasal ventilation (widely used for long term mechanical ventilation at home). Following in France the first studies of Rideau in the '80 in patients with chronic respiratory failure secondary to muscular dystrophy, Meduri, then Brochard demonstrated the interest of non invasive mechanical ventilation in the management of acute on chronic respiratory failure. A simple algorithm is thus able to recommend in first attempt use of non invasive mechanical ventilation in acute on chronic respiratory failure except if the patient presents in a severe respiratory status imposing in first line endotracheal ventilation. In parallel, more recent studies have demonstrated the interest of that technique in immediate ventilatory link in the spectrum of weaning of endotracheal mechanical ventilation. In hypoxic acute respiratory failure, non invasive mechanical ventilation remains controversial and seems to be better indicated in moderate to severe respiratory status.
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PMID:[Non-invasive ventilation in acute respiratory insufficiency]. 1095 59


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