Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with non-Fukuyama type merosin-positive congenital muscular dystrophy (nonFCMD) who had severe muscle weakness leading to early death was reported. He was the first product of epileptic mother who had been placed on phenobarbital and phenytoin. The patient had severe respiratory failure and muscle weakness at the neonatal period, and died at 4 months of age. Multiple joint contractures were also noted at birth. Serum creatine kinase was within normal limits (123 IU/l). Electromyography showed a myogenic pattern. Brain computed tomographic (CT) scan and magnetic resonance imaging (MRI) were normal without white matter lucency or pachygyria. Muscle biopsy revealed dystrophic changes and type 2C fiber predominance. Dystrophin, dystrophin-associated glycoproteins and merosin were all positively demonstrated. Although patients with merosin-positive nonFCMD have relatively mild clinical course, our patient had severe muscle weakness with fatal outcome. Defect in muscle fiber maturation and differentiation, such as an increase of undifferentiated type 2C fibers, may be a major factor to influence muscle symptoms in non FCMD.
 ...
PMID:[Non-Fukuyama type merosin-positive congenital muscular dystrophy with delayed muscle fiber type differentiation: a case report]. 761 93

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children. Paralysis of respiratory muscles causes a decrease in forced vital capacity (FVC) from age 12 years, and death occurs between 20 and 25 years old and is usually related to respiratory insufficiency. Uncontrolled studies suggest that early home use of nasal intermittent positive-pressure ventilation (NIPPV) in DMD patients free of respiratory failure could limit progression of the restrictive syndrome and therefore improve survival because efficacy of preventive NIPPV has not been demonstrated in a controlled trial, we undertook a randomised multicentre study in which 70 patients with DMD were included. Patients were free of daytime respiratory failure and FVC was between 20 and 50% of predicted values. At least 6 h of nocturnal NIPPV (n = 35) was compared with conventional treatment (n = 35). During a mean follow-up of 52 months, 10 patients died, 8 in the NIPPV group and 2 in the control group (p = 0.05, log-rank test). No differences were observed between the two groups for occurrence of hypercapnia, decrease of FVC below 20% of initial values, or use of necessary mechanical ventilation. Preventive NIPPV did not improve respiratory handicap and reduced survival of DMD patients. Use of NIPPV for preventive purposes should be avoided in patients with FVC between 20 and 50% of predicted values.
 ...
PMID:Randomised trial of preventive nasal ventilation in Duchenne muscular dystrophy. French Multicentre Cooperative Group on Home Mechanical Ventilation Assistance in Duchenne de Boulogne Muscular Dystrophy. 798 Aug 25

We describe 53 patients who received ventilatory support with a rocking bed. Diagnoses included previous poliomyelitis (30), muscular dystrophy (12), motor neurone disease (4), adult-onset acid maltase deficiency (4) and a miscellaneous group (3). Patients presented with respiratory insufficiency characterized by diaphragm weakness, progressive nocturnal hypoventilation and/or acute or chronic respiratory failure. Domiciliary rocking beds were used by 43 patients for a mean of 16.0 years (range 1 month to 35 years). Most patients were able to breathe adequately by day when sitting or standing, but needed assistance by rocking bed for 6-11 h when lying down for sleep. The rocking bed was well-tolerated, and associated with both symptomatic relief and amelioration of arterial blood gas abnormalities. Seventeen of these 43 patients discontinued its use, either because of discomfort (9) or increasing respiratory insufficiency (8). The rocking bed is a valuable adjunct in the management of the respiratory insufficiency associated with neuromuscular disease.
 ...
PMID:Use of the rocking bed in the treatment of neurogenic respiratory insufficiency. 792 94

Electrocardiographic changes were evaluated in 20 patients with a diagnosis of Duchenne's muscular dystrophy (DMD) for a period of 4 to 9 years preceding their death. Certain common electrocardiographic findings were noted in patients during the terminal stage of their disease, and may have prognostic significance. These included: an R wave in lead V1 of less than 0.6 mV, in lead V5 of less than 1.1 mV, and in lead V6 of less than 1.0 mV; abnormal T waves in leads II, III, a VF, V5 and V6; cardiac conduction disturbances; premature ventricular contractions; and sinus tachycardia. A predictive scoring system was proposed based on these findings. The predictive scores for patients who died primarily from cardiac failure were significantly higher than for patients who died primarily from respiratory failure. This score increased to over 10 points as the patient's clinical condition deteriorated. In conclusion, a predictive score is useful in managing patients with DMD, particularly when evaluating for possible cardiac failure.
 ...
PMID:Predictive electrocardiographic score for evaluating prognosis in patients with Duchenne's muscular dystrophy. 821 81

Malnutrition is a serious threat to patients with neuromuscular disease and marginally-compensated respiratory muscle weakness. It causes atrophy of inspiratory muscles, further weakening them. It reduces respiratory drive, potentially aggravating respiratory failure, either directly or indirectly, by promoting atelectasis and pneumonia, and it contributes strongly to such patients' risk of infection, their most common cause of death. In treating such patients, it must be remembered that abrupt increases in nutritional support, particularly with high percentages of carbohydrates, will increase CO2 production, potentially worsening ventilatory failure. Certain selected neuromuscular disease patients benefit from specific nutritional treatments (carnitine for carnitine deficient patients, high-calorie diets for muscular dystrophy and acid-maltase deficiency). Finally, the amino acid, fat, and nucleic acid content of the diet affects the immune response in beneficial or harmful ways, that are just now being elucidate. The potential for useful nutritional interventions in patients with neuromuscular diseases has never looked better, but is not yet fully realized. The challenges for the future will be to work out the beneficial and harmful effects of the various nutrients in the various diseases, to find ways to rapidly identify patients who will benefit, and to determine the safest, least uncomfortable, and most effective methods of delivery of the required nutrients.
 ...
PMID:Nutritional factors in the pathogenesis and therapy of respiratory insufficiency in neuromuscular diseases. 825 75

Prior studies have shown that nasal intermittent positive pressure ventilation (NIPPV) can improve arterial blood gas values, prevent symptoms resulting from alveolar hypoventilation, and decrease hospitalization in patients with chronic respiratory failure. Most studies have involved small samples of patients followed up for a limited time. This study reviews our experience during 5 years use of NIPPV in 276 patients with kyphoscoliosis, posttuberculosis sequelae, Duchenne-type muscular dystrophy, COPD, and bronchiectasis followed up for > or = 3 years while receiving NIPPV. Outcomes were compared for patients who survived short term eg, died or converted to management with a tracheostomy and intermittent positive ventilation (TIPPV) during year 1 or year 2 on a regimen of NIPPV and long term, eg, survived more > or = 2 years on a regimen of NIPPV. The most favorable outcome was achieved by patients with kyphoscoliosis and posttuberculosis sequelae with improvement in PaO2 and PaCO2 (p < 0.0001) and a reduction in days of hospitalization for respiratory illness (p < 0.0001) for > or = 2 years while receiving NIPPV. Patients with Duchenne-type muscular dystrophy also had fewer hospital days during NIPPV (p < 0.003) but only 9 of 16 patients (56 percent) continued using NIPPV for the duration of followup. Benefit was also more short term for patients with COPD and bronchiectasis. NIPPV can sustain improvement in gas exchange, while reducing hospitalization for substantial periods of time. NIPPV can be an attractive and effective alternative to other methods of assisted ventilation such as TIPPV.
 ...
PMID:Nasal intermittent positive pressure ventilation. Long-term follow-up in patients with severe chronic respiratory insufficiency. 784 13

Myocardial damage and cardiopulmonary functions in patients with Duchenne's muscular dystrophy (DMD) were assessed using thallium-201 myocardial single-photon emission computed tomography (SPECT) and technetium-99m multigated radionuclide angiography. Twenty-five patients with DMD were divided into 4 groups according to percent of perfusion defect (%PD) calculated by the bull's-eye method and age. PD was detected in 24 (96.0%) of 25 patients with DMD, and it spread from the left ventricular lateral wall to the anterior wall and/or interventricular septum. PD was detected even in a 6-year-old DMD boy. Patients in Group I (%PD > or = 10 and age < 15 years old) were shown to have a higher risk of left-sided heart failure without respiratory failure. Patients in Group II (%PD > or = 10 and age > or = 15) showed decreased pulmonary function and worsened arterial blood gas values as compared with Group IV (%PD < 10 and age > or = 15). There was no significant difference in cardiac function among the 4 groups. It is postulated that myocardial damage in Group II patients is dependent primarily on a deficiency of dystrophin and on chronic respiratory failure, and that some of them are at risk of cardiopulmonary failure. It is concluded that myocardial SPECT is useful for the early diagnosis of myocardial damage and evaluation of cardiopulmonary function in DMD patients.
 ...
PMID:Evaluation of myocardial damage in Duchenne's muscular dystrophy with thallium-201 myocardial SPECT. 851 72

Eight ambulant children aged 6-13 years, four with congenital myopathy, two with congenital muscular dystrophy and two with the rigid spine syndrome, presented with recurrent chest infections, morning headaches, shallow breathing at night, or respiratory failure. Polysomnography confirmed the presence of nocturnal hypoxaemia with oxygen saturation on average less than 90% for 49% of sleep and less than 80% for 19% of sleep accompanied with severe hypoventilation. Additionally there was sleep disturbance characterised by an increased number of wake epochs from deep sleep (in comparison to 10 non-hypoxaemic subjects). The severity of sleep hypoxaemia did not correlate with symptoms. Treatment with night time nasal ventilation was started and repeat polysomnography showed normal overnight oxygen saturation and a reduced number of wake epochs during deep sleep. It is important to be vigilant for sleep hypoventilation in these patients and sleep studies should be part of the routine respiratory evaluation. Treatment with nasal ventilation is effective in reversing the nocturnal respiratory failure without significant disturbance to life style.
 ...
PMID:Sleep studies and supportive ventilatory treatment in patients with congenital muscle disorders. 878 21

Duchenne's progressive muscular dystrophy (DMD) is a genetic muscle disorder that causes degeneration and atrophy of the systemic and cardiac muscle. The disease is manifested early in childhood, and most of patients die by age 20 years of respiratory failure or heart failure. The cardiac involvement in DMD is characterized pathologically by degeneration and fibrosis of the myocardium, centering around the posterolateral wall of the left ventricle. Functionally, an abnormal electrocardiogram, valve motion, wall thickness, and wall motion are observed. Furthermore, abnormalities in plasma levels of atrial natriuretic peptide and autonomic function are also demonstrated. In this review, the cardiac involvements in DMD in the following aspects are described: 1) Electrocardiogram; a) high-frequency notches on the QRS complexes, b) amplitude of QRS complexes, c) late potential, d) arrhythmias, e) heart rate variability, f) a 10-year follow-up study, 2) Echocardiographic findings, 3) Hemodynamic findings, 4) Atrial natriuretic peptide.
 ...
PMID:Cardiac involvement in progressive muscular dystrophy of the Duchenne type. 920 Nov 4

Patients with neuromuscular disease may suffer from nocturnal respiratory failure despite normal daytime respiratory function. The physiological reduction in muscle tone during sleep may be life-threatening in a patient with impaired muscle strength. Nocturnal respiratory failure may occur in patients with the postpolio syndrome, amyotrophic lateral sclerosis, myasthenia gravis, myotonic dystrophy, and muscular dystrophy. Diagnosis of obstructive, central and mixed apneas, hypopneas, and hypoventilation is best made using polysomnography. Therapeutic options include noninvasive ventilation such as continuous positive airway pressure, bilevel positive airway pressure, intermittent positive pressure ventilation and, rarely, tracheostomy, oxygen, or protriptyline. Evaluation by a sleep specialist should be initiated in any neuromuscular patient with nocturnal symptoms such as air hunger, intermittent snoring or breathing, orthopnea, cyanosis, restlessness, and insomnia. Daytime symptoms may include morning drowsiness, headaches and excessive daytime sleepiness. Polycythemia, hypertension, and signs of heart failure may also be seen. Effective treatment is available, and may improve the quality of life, and possibly increase survival.
 ...
PMID:Nocturnal respiratory failure as an indication of noninvasive ventilation in the patient with neuromuscular disease. 967 Mar 10


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>