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

1. Quadriceps muscle protein synthetic rate has been determined in healthy subjects in the post-absorptive (n = 18) and fed (n = 10) states and in patients with a variety of myopathies, by analysis of the enrichment of serial muscle biopsies taken during primed continuous infusion of L-[1-13C]leucine. 2. Quadriceps protein synthetic rates in normal subjects were (mean +/- SD) 0.046 +/- 0.012 and 0.075 +/- 0.014%/h in the post-absorptive and fed states respectively. These results are significantly lower than we previously reported (M. J. Rennie et al., Clinical Science, 1982, 63, 519-523 [1]) but show the same relative differences of direction and magnitude, confirming the effects of feeding previously reported. In patients with muscular dystrophy, muscle protein synthetic rate was, as previously reported [1], much lower in the fed state than in normal subjects. A new finding is that for patients with myotonic dystrophy the rate is also depressed in the post-absorptive state. 3. We suggest that the present estimates in post-absorptive and fed normal subjects be used as reference values for quadriceps mixed muscle protein synthetic rate.
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PMID:Rate of protein synthesis in skeletal muscle of normal man and patients with muscular dystrophy: a reassessment. 334 33

Biophysical abnormalities of the erythrocyte membrane in muscular dystrophies have been described by numerous authors. This work presents the results we have obtained on 23 subjects suffering from myotonic muscular dystrophy (MyD, Steinert disease) by the spin label method. Two types of fatty acid spin labels were used: 5-nitroxide stearic acid (5NS) and 16-nitroxide stearic acid (16NS) which probe the membranes respectively near their polar heads and in their hydrophobic core. We measured the classical order parameter, the saturation behaviour of the electron paramagnetic resonance signal, and the label apparent rotation correlation time as a function of the temperature, on fresh and in vitro stored red blood cells. With the 5NS label, no differences were found between controls and patients. With the 16NS label, a highly significant variation in the thermic behaviour of the membrane is observed in its hydrophobic and fluid core. This last result may suggest some similarities between the red blood cell membranes of adult MyD's and healthy children.
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PMID:Physical state abnormality of erythrocyte membrane in myotonic dystrophy: a spin label study. 358 83

We evaluated the frequency of cerebral infarction in 131 patients with Duchenne's muscular dystrophy, myotonic dystrophy, Becker's muscular dystrophy, or Friedreich's ataxia. Electrocardiographic abnormalities were found in 83% of patients with Duchenne's muscular dystrophy, 56% with myotonic dystrophy, 50% with Becker's muscular dystrophy, and 25% with Friedreich's ataxia. Atrial flutter occurred in 2.3% of the patients, and atrial fibrillation in only 0.9%. Evidence of cerebral infarction was found in only 2 patients (1.5%). Both patients had cardiomyopathy and either atrial fibrillation or flutter. Despite frequent cardiac involvement, cerebral infarction is an uncommon occurrence in patients with inherited neuromuscular diseases.
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PMID:Frequency of cerebral infarction in patients with inherited neuromuscular diseases. 360 8

Cardiac disease is commonly associated with virtually every form of muscular dystrophy and myopathy. A double-blind and open crossover trial on the oral administration of coenzyme Q10 (CoQ10) to 12 patients with progressive muscular dystrophies and neurogenic atrophies was conducted. These diseases included the Duchenne, Becker, and limb-girdle dystrophies, myotonic dystrophy, Charcot-Marie-Tooth disease, and Welander disease. The impaired cardiac function was noninvasively and extensively monitored by impedance cardiography. Solely by significant change or no change in stroke volume and cardiac output, all 8 patients on blind CoQ10 and all 4 on blind placebo were correctly assigned (P less than 0.003). After the limited 3-month trial, improved physical well-being was observed for 4/8 treated patients and for 0/4 placebo patients; of the latter, 3/4 improved on CoQ10; 2/8 patients resigned before crossover; 5/6 on CoQ10 in crossover maintained improved cardiac function; 1/6 crossed over from CoQ10 to placebo relapsed. The rationale of this trial was based on known mitochondrial myopathies, which involve respiratory enzymes, the known presence of CoQ10 in respiration, and prior clinical data on CoQ10 and dystrophy. These results indicate that the impaired myocardial function of such patients with muscular disease may have some association with impaired function of skeletal muscle, both of which may be improved by CoQ10 therapy. The cardiac improvement was definitely positive. The improvement in well-being was subjective, but probably real. Likely, CoQ10 does not alter genetic defects but can benefit the sequelae of mitochondrial impairment from such defects. CoQ10 is the only known substance that offers a safe and improved quality of life for such patients having muscle disease, and it is based on intrinsic bioenergetics.
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PMID:Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10. 385 73

In a study designed to evaluate esophageal motor function in muscular dystrophy we examined 13 patients with myotonic dystrophy, 14 patients with "nonmyotonic" muscular dystrophy, and 8 healthy control subjects by manometric and radionuclide transit studies. Patients with myotonic dystrophy exhibited a marked weakness of esophageal contractions and upper esophageal sphincter pressure. Coordination of sphincter relaxation and peristaltic sequences remained unaltered. These changes led to delayed esophageal emptying in all patients with myotonic dystrophy. Although esophageal function was also impaired in the distal esophagus, on histologic studies, morphologic alterations were confined to esophageal striated muscle in a single patient with myotonic dystrophy. In contrast to the marked dysfunction of esophageal motility in patients with myotonia, no such alterations were observed in the "nonmyotonic" form of muscular dystrophy.
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PMID:Esophageal motor function in patients with muscular dystrophy. 394 94

A patient thought to be normal was admitted with premature labor at 29+ weeks' gestation. Treatment with the beta-mimetic ritodrine hydrochloride appeared to provoke symptoms of myotonic muscular dystrophy. Neurological history and examination confirmed the presence of previously unsuspected myotonic dystrophy in the patient, her father, and paternal grandfather. Discontinuation of the drug led to improvement in myotonia symptoms but worsening premature labor. Magnesium sulfate did not provoke the same symptoms but was unsuccessful in controlling premature contractions. Long-term management with bed rest, phenytoin, and isoxsuprine hydrochloride resulted in term delivery. Subsequently, maternal symptoms of myotonia disappeared. Congenital myotonia was suspected in the fetus because of the ultrasonic demonstration of polyhydramnios and reduced fetal movements. This was confirmed at delivery. The mechanism by which ritodrine unmasked the myotonia is unclear but may be related to changes in the cell membrane (chloride conductance, the sodium-potassium pump, or membrane polarization).
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PMID:Myotonic muscular dystrophy associated with ritodrine tocolysis. 396 11

Myotonic muscular dystrophy is a disorder of humans that involves many organ systems. Physiological studies have suggested that the fundamental defect is of membrane origin. Heretofore, no reproducible metabolic abnormalities have been demonstrated. In the present studies we used erythrocyte ghosts as a convenient source of purified membranes that do not possess changes of denervation, dystrophy, and fibrosis that might complicate the interpretation of muscle membrane changes. Our experiments demonstrated a significant difference in the phosphorylation of erythrocyte ghost protein by [gamma-(32)P]ATP, with endogenous protein kinase of erythrocyte membrane as the enzyme source. After ghosts were kept for 1 week at -20 degrees , phosphorylation of membrane protein in eight controls was twice as high as endogenous protein kinase activity measured in fresh preparations. No stimulation was seen in preparations from seven myotonic dystrophy patients from three different families. This reproducible difference in normal and myotonic membranes may represent an important new approach to studies of this debilitating inborn error of metabolism.
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PMID:Protein kinase activity in erythrocyte ghosts of patients with myotonic muscular dystrophy. 435 59

Calcium uptake on muscle microsomal fraction has been investigated in connection with bioelectrical activity in some muscle diseases. The findings showed a significant increase of calcium uptake in denervated muscle, which exhibited spontaneous bioelectrical activity (fibrillations). In myotonias, a low calcium uptake was peculiar to Steinert's disease but not to myotonia congenita. In other muscle diseases, such as progressive muscular dystrophy (Duchenne's type) or Charcot-Marie-Tooth's disease, the ability of muscle microsomal fraction to bind calcium was not changed. Starting with the key role of calcium in excitation-contraction coupling, the implications of calcium uptake disturbances in muscle electrogenesis are discussed.
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PMID:Calcium uptake and bioelectrical activity of denervated and myotonic muscle. 543 20

1. Serum bile acids in seven patients with adult type myotonic dystrophy and 22 normal persons were quantitatively analysed by gas-liquid chromatography and gas chromatography-mass spectrometry for cholesterol, gamma-glutamyltransferase and bilirubin. There was no bile obstruction in any patient. 2. Dexoycholic acid values in all mothers of patients with congenital type myotonic dystrophy were three times (2.1 mumol/l) that of the control (0.7 mumol/l). 3. Uncommon bile acids were detected in the patients' sera. One of them appeared to be dihydroxymono-oxocholanic acid, having a longer side chain. Another one appeared to be dihydroxycholanic acid, with a steroid-nucleus structure similar to chenodeoxycholic acid and with a longer side chain. 4. Biliary bile acids from three patients and one normal person were also analysed, and this revealed a remarkable decrease in ursodeoxycholic acid in the patients. 5. The presence of bile acid abnormality in patients with myotonic muscular dystrophy is proposed.
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PMID:Abnormalities of bile acids in serum and bile from patients with myotonic muscular dystrophy. 612 99

We analyzed and quantified the microcomponents of protein fractions in the cerebrospinal fluid of patients with various types of muscular dystrophy. The degenerative pattern is characterized by an increase in the prealbumin fraction and a decrease in the gamma-globulin fraction as shown in the Duchenne and congenital muscular dystrophy. The increase in CSF IgG, gamma-globulin fraction, and myelin basic protein is shown in the myotonic dystrophy. In addition to the lowness of IQ, and the abnormality of EEG and brain CT, abnormal CSF proteins obviously suggest the presence of CNS involvement in muscular dystrophy.
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PMID:Cerebrospinal fluid proteins in muscular dystrophy patients. 620 22


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