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

6-Mercaptopurine (6-MP) was injected daily (2 mg/kg sc) into 24 Sprague-Dawley rats during the first three weeks of life. There were 23 saline-injected control animals. Atrophy of the muscles of the hindquarters in the 6-MP-treated rats began at about 4 months of age. The membrane potentials (Em) of the isolated extensor digitorum longus (EDL) and the caudofemoralis (CF) muscle (in situ) were measured with intracellular microelectrodes at 6-18 months of age. It was found that there was a wide spectrum of fibers with respect to electrical abnormalities in the 6-MP-treated muscles, some fibers having perfectly normal parameters. However, the mean resting Em of fibers in the EDL muscle of 6-MP-treated rats (-61.1 +/- 0.7 mV) was lower than that of the control rats (-69.7 +/- 0.6 mV). The same was true for the fibers of the CF muscle (-64.9 +/- 1.5 mV for 6-MP-treated fibers vs -71.6 +/- 1.3 mV for controls). Experiments done in the presence and absence of ouabain indicated that the contribution of the electrogenic pump potential to Em was similar in 6-MP-treated and control rats, and therefore could not account for the depolarization observed in 6-MP-treated rats. The data also demonstrated that this depolarization was not due to a decreased intracellular K+ concentration. The Na+/K+ permeability ratio (PNa/PK) was higher in the 6-MP-treated rats, and could account for the decreased resting Em. The APs of 6-MP-treated rats (elicited from the natural Em of the fiber) had more fibers with a lower maximum rate of rise (+Vmax) (330 +/- 20 vs 391 +/- 17 V/sec) and lower amplitude (65.1 +/- 2.9 vs 73.3 +/- 1.8 mV) than in the control muscles. When hyperpolarized to -90 mV before eliciting the AP, fibers from 6-MP-treated rats still displayed depressed AP rates of rise (+Vmax of 382 +/- 19 vs 511 +/- 21 V/sec in controls), depressed AP amplitudes (97 +/- 2.1 vs 105 +/- 1.6 mV in controls) and slightly prolonged duration at 50% amplitude (APD50) (0.66 +/- 0.03 vs 0.60 +/- 0.02 sec in controls). These electrophysiological alterations produced by this chemically-induced myopathy are similar to those observed in murine muscular dystrophy.
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PMID:6-Mercaptopurine treatment affects the membrane potentials of rat skeletal muscle fibers. 378 53

The clinical and morphological features of a congenital myopathy in a young male golden retriever dog were studied. Muscle biopsies at 4 and 8 months of age were examined with light and electron microscopy. Clinical features included early onset of generalized muscle weakness with selective muscle atrophy and hypertrophy, splaying of the limbs, stiff gait, and marked elevation of serum creatine kinase (CK). An electromyograph revealed spontaneous electrical activity characterized by sustained high-frequency activity, which was not abolished by neuromuscular blockade. Morphologically there was marked hypercontraction and segmental necrosis of muscle fibers with phagocytosis and regeneration. Ultrastructurally, dilatation of sarcoplasmic reticulum was the most consistent feature associated with early fiber degeneration. No abnormalities were noted in the central or peripheral nervous system. Progression of the disease was evident at 8 months. It was concluded that the findings are consistent with a dystrophic process of primary muscle origin. The probable genetics and comparison to other animal models of muscular dystrophy and to Duchenne dystrophy are discussed.
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PMID:Progressive muscular dystrophy in a golden retriever dog: light microscope and ultrastructural features at 4 and 8 months. 379 43

On the basis of the cases registered in the Outpatient Clinic for Muscular Diseases, Medical Academy in Warsaw including patients with progressive muscular dystrophy, and after an analysis of follow-up data the epidemiological indices and mutation indices were estimated in the population of Warsaw, Province of Warsaw and Province of Radom for the years 1960-1976. The calculated indices of incidence and prevalence of dystrophy and mutation were at the upper range of values reported in world literature. They were, however higher than those estimated in previous years in the same regions by Prot. The calculated index of natural abortions in mothers of patients with Duchenne's dystrophy was slightly higher than in the control group of women. Follow-up investigations show that the genetic counselling in this disease was insufficient in that time period.
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PMID:[Epidemiology of progressive muscular dystrophy in selected regions of Poland]. 383 91

A 25 years old woman was admitted with a history of apparent hypertrophy of the calves, specially on the left, slight pain in the legs and difficulty in walking. Electromyography showed giant motor unit potentials with complete interference pattern. Biopsy of both gastrocnemii was performed revealing a cysticercus among inflammatory infiltrate and changes of the muscle fibers. Review of the literature disclosed 12 other reported cases. The age ranged from 10 to 35 years with a median of 25 years. Pseudohypertrophic myopathy due to cysticercosis has been found twice more common in males than in females. History of epilepsy and muscle pain occurs in about one half of the cases and muscle weakness in about one third of them. Usually there is simultaneous involvement of the upper and lower limb girdles. Myotonia is rare but subcutaneous nodules are frequently found. Our case is unique in the literature in which the pseudohypertrophy was confined to the legs and electromyography showed giant motor unit potentials. The pathogenesis of this condition is discussed and attention is called to the differential diagnosis with other pseudohypertrophic muscular conditions such as pseudohypertrophic muscular dystrophy, myotonia congenita, trichinosis, hypothyroidism, amyloidosis and glycogenosis of type I (Pompe's disease) in its juvenile form.
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PMID:[Pseudohypertrophic myopathy caused by cysticercosis. Report of a case]. 383 41

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

Seventy-five needle muscle biopsies have been performed in this department over the past two years. Adequate biopsies were obtained in 69 cases. In 40 cases a variety of neuromuscular conditions was seen, broadly categorised as necrotizing myopathy (10), neurogenic atrophy (7), metabolic myopathy (5), vasculitis (2), normal muscle (7), and non-specific changes (9). Twenty-nine cases were for muscular dystrophy carrier detection. There were no complications associated with the procedure. The technique is simple and quick, and can be performed on outpatients or in the ward. Needle biopsy is the method of choice for sampling skeletal muscle in most patients, although open biopsy is still indicated for certain conditions.
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PMID:Needle muscle biopsy: will it make open biopsy obsolete? 386 Nov 63

It has been well documented that children with severe neuromuscular disorders have tall vertebrae, presumably a consequence of altered mechanical forces. This finding was present in four neonates who were born with severe "floppy" hypotonia due to Werdnig-Hoffmann disease (two cases), nonspecific neonatal myopathy, and congenital muscular dystrophy. Fetal vertebral development is normally modified by intrauterine muscle tension and fetal activity.
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PMID:Tall vertebrae at birth: a radiographic finding in flaccid infants. 387 40

Two unrelated patients with severe arthrogryposis multiplex congenita (AMC) who died perinatally, are presented. In both, postmortem examination revealed an intact nervous system and striking dystrophic muscle changes, consistent with congenital muscular dystrophy (CMD). Few similar cases have been reported before, but since the condition is not well known, it seems probable that in the past many have been labeled as mere multiple malformations. The possibility of an underlying muscular disorder, either primary myopathic or neurogenic should be considered in any patient with early lethal AMC. Our findings confirm that the fetal akinesia-arthrogryposis sequence is a nonspecific clinical syndrome resulting from various causes of muscular inactivity in utero. The main objective of this report is to provide reasonable guidelines on how to approach the problem of classification. We favor a pathogenetic approach, depending upon careful sampling of the central nervous system and skeletal muscles at autopsy.
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PMID:Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita. 393 70

Two sisters with progressive myopathy demonstrated microscopic and biochemical evidence of lipid storage in skeletal muscle. Their muscle biopsy specimens resembled those seen in Duchenne's muscular dystrophy and some of the biochemical features were similar, including increased muscle concentration of long-chain acyl-coenzyme A (a fatty oxidation intermediate) and decreased oxidation of radioactively labeled fatty acids by muscle homogenates in vitro. Although the site of the defect was not localized, the data suggested impairment of intramitochondrial beta-oxidation of fatty acids. These two patients may be important in understanding the pathogenesis of muscular dystrophy.
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PMID:'Dystrophic' lipid myopathy in two sisters. 394 49

The occurrence of alkaline phosphatase was observed in regenerating muscle fibres, especially in polymyositis and muscular dystrophy. No differences in the appearance of this enzyme were seen in these diseases. Alkaline phosphatase was not encountered in neurogenic atrophy, with the exception of cases of an accompanying myopathy. These cases show a clear picture without problems in the morphological differential diagnosis. The histochemical demonstration of the enzyme is helpful in the differential diagnosis of neurogenic atrophy and muscular dystrophy of benign type. It is of no use to distinguish between muscular dystrophy of malignant type and parenchymatous polymyositis.
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PMID:The significance of the detection of alkaline phosphatase in the diagnosis of neuromuscular diseases. 396 33


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