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)

For the purpose of observing the therapeutic benefit of protease inhibitors for progressive muscular dystrophy, a large quantity of doses of leupeptin of 10 mg/kg/day and 50 mg/kg/day were administered i.p. to male chickens afflicted with hereditary muscular dystrophy (line 413) for 4 months starting on the 7th day ex ovo. No clinical improvement was identified in physical ability as a result of the examination by flip test, and creatine kinase (CK) values. The number of necrotic fibers in the pectoralis superficialis (PS) muscle which is known to be preferentially damaged in dystrophic chicken, did not decrease significantly in the birds treated with 10 mg leupeptin/kg/day (number of necrotic fibers; 47.7/mm2) and 50 mg/kg/day (46.4/mm2) as compared to that of the untreated ones (43.2/mm2). A morphometric analysis of fiber diameter distribution also showed no statistical difference between the treated and untreated birds. In the second group, 10 mg leupeptin/kg and a combination of leupeptin and bestatin of 10 mg/kg each were injected directly into the left lower half of the PS muscle three times a week for 4 months. Necrotic fibers were still present in the injected site, remote area of the left upper PS muscle treated with leupeptin (52.7/mm2), leupeptin and bestatin (52.2/mm2), and contralateral right upper PS muscle (41.6 and 53.5/mm2, respectively). The number of necrotic fibers in treated muscles was again not significantly different from that in untreated dystrophic ones (39.6/mm2). In fiber diameter analysis, no statistical difference was recognized between the treated and untreated dystrophic muscles.
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PMID:Therapeutic trial with protease inhibitor (leupeptin) in chicken muscular dystrophy. A histologic and histochemical study. 715 5

Plasma creatine kinase (P-CK) activities were significantly increased after physical exercise in healthy turkeys and in turkeys with genetic muscular dystrophy. Activities as high as 100,500 mU/ml of plasma were observed. Activities remained high for at least 29 hours after exercise. Moderate exercise did not significantly affect P-CK activity in lambs. Increases in P-CK activity during expression of nutritional muscular dystrophy were readily distinguished from exercise effects; activity exceeded 160,000 mU/ml in lambs during expression of that condition.
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PMID:Influence of physical exercise on plasma creatine kinase activity in healthy and dystrophic turkeys and sheep. 716 69

In both normal chicks and chicks with hereditary muscular dystrophy the BB (brain) and MB (hybrid) isozymes were the predominant forms of creatine kinase (CK) activity in embryonic skeletal muscle. As myogenesis progressed, activity due to the MM (muscle) isozyme progressively increased, and by 1 week ex ovo, the MM isozyme accounted for approximately 97% of total muscle activity in both genotypes. During this time, the proportion of the MM isozyme was slightly but significantly lower in dystrophic muscles. After hatching the proportion of the MB isozyme and its total activity decreased in normal muscle, but increased in dystrophic pectoral muscle, and by 5 months ex ovo, the MB isozyme accounted for 10% of total CK activity. Prior to hatching there was no consistent difference in total CK activity between normal and dystrophic tissues, but by 1 week after hatching and thereafter, total CK activity was significantly lower in dystrophic pectoral muscle.
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PMID:Creatine kinase isozyme transition in chicks with hereditary muscular dystrophy. 720 7

Total activity of creatine kinase (CK), lactate dehydrogenase (LD), aldolase (Ald), glutamico-oxaloacetic transaminase (GOT), and LD-isoenzyme distribution was studied in serum and muscle biopsies from normal persons and 117 patients with different types of muscular dystrophy: 82 Duchenne type (DMD), 12 BEcker type, 7 facioscapulohumeral (FSHMD), and 16 limb girdle (LGMD). Total enzyme activity in sera and muscle homogenates was determined by spectrophotometric assays. LD isoenzymes were separated by electrophoresis on agarose gel plates in barbital buffer (pH 8.6), scanned and quantitated. The amounts of the 2 types (M and H) of LD isoenzymes were calculated and the ratio of M/H in serum and muscle was used as an index to differentiate among the types of muscular dystrophy. Serum enzyme activity was elevated to variable degrees reflecting a corresponding decrease in muscle enzymes in the different muscular dystrophies. Patterns of LD isoenzymes in serum and muscle were specific to each type of muscle disease. Increase in serum LD5 (the muscle LD fraction) was a common feature in muscle damage. Changes in the amounts of M and H types in the subunits of LD correlated to the existence and severity of muscle damage. The mean muscle M/H ratio was 6.4 in controls, 1.8 in early DMD, 0.1 in late DMD, 3.0 in Becker type, 3.8 in FSHMD and 3.9 in LGMD. The muscle LD isoenzyme distribution in DMD showed a shift toward a more aerobic fetal muscle pattern. This is a result of the gradual disappearance of the mature anaerobic LD-type (M) and the increase in synthesis of the aerobic fetal LD-type (H) during the progression of the disease. This report provides a comparative study of the LD isoenzyme patterns in muscular dystrophies which may help in differential diagnosis.
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PMID:Muscle and serum enzymes and isoenzymes in muscular dystrophies. 723 20

Serum myoglobin was measured by a sensitive radioimmunoassay in healthy controls and in patients with skeletal muscle disorders such as polymyositis and Duchenne type muscular dystrophy. The serum myoglobin levels were closely related to the serum creatine kinase (CK) activity, thus indicating that myoglobin is a useful adjunct in the assessment of muscle cell damage.
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PMID:[Myoglobin radioimmunoassay: experience of the diagnosis of skeletal muscle disorders (author's transl)]. 725 83

The severe Duchenne type of muscular dystrophy is inherited as an X-linked recessive trait. Approximately two thirds of healthy female heterozygous carriers have a high serum creatine kinase (SCK). A suspected carrier with a normal SCK level therefore, presents an important problem in genetic counselling. Based on Bayesian methods, Emery and Hollyway derived a formula which is applicable when the sporadic case is either the son or brother of a consultant and which also includes information on SCK levels in the consultant and in normal daughters and sisters. The present paper describes the results obtained with use of this formula in 27 families with at least a propositus with Duchenne muscular dystrophy.
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PMID:[Estimation of the probability of heterozygosity in Duchenne-type progressive muscular dystrophy]. 728 70

Members of three unrelated families with the mild Becker type of muscular dystrophy were subjected to lymphocyte capping tests and measurements of serum creatine kinase activity. Both tests correctly identified all nine affected males, but only the capping test was abnormal in seven of eight obligate carriers. The number of capped cells in carriers and affected persons with the Becker-type dystrophy was generally intermediate between those observed for individuals with the Duchenne trait and normal controls, thus potentially aiding in the differential diagnosis between the two myopathies. The lack of sensitivity of measurements of serum creatine kinase activity in identifying carriers is further complicated by the difficulty of establishing reliable reference intervals for this enzyme in 204 healthy controls. Detailed directions for the performance of the capping test are presented.
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PMID:The contribution of assays for lymphocyte capping and creatine kinase to detection of the Becker-type dystrophy trait. 737 Nov 53

The Becker's Muscular Dystrophy (BMD) is a disease with similar aspect and distribution to the Duchenne Muscular Dystrophy (DMD), although it is usually less severe. The main purpose of this investigation was to outline the most important clinical characteristics that can help in the differential diagnosis between these two diseases. Thirty eight patients were studied; 16 with BMD and 22 with DMD. Clinically both are very similar, and the best criteria for the differentiation of this two diseases is the inability to walk. The age of symptomatology onset was 10.5 +/- 7.2 years in BMD and 2.3 +/- 13 years in DMD showing an overlapping of 18.42% of DMD and DMB at the age of 4, this overlapping difficult the precise diagnosis between both diseases. The creatine kinase (CK) study was not relevant.
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PMID:[Differential diagnosis of Becker and Duchenne muscular dystrophy]. 755 60

A 14-year-old Chinese boy, who first became aware of muscle weakness in the lower limbs at 6 years of age, had progressive distal muscle weakness and atrophy, predominantly in the lower leg muscles. He exhibited reduced ankle dorsiflexion and tended to walk on his toes, showing preferential anterior tibial muscle involvement. Laboratory examination revealed a moderately elevated serum creatine kinase level of 905 IU/l. Computed tomographic scanning of muscle disclosed low density areas in the lower legs. A muscle biopsy specimen from the biceps brachii revealed mild dystrophic changes. We made a diagnosis of distal muscular dystrophy based on these findings, but could not classify it as one of the previously reported forms. The symptoms mimicked those of tibial muscular dystrophy, though the onset of the disease is far earlier than the previously described ones of distal muscular dystrophies. It remains unknown whether this patient has a new type of distal muscular dystrophy, or a variant form of the Miyoshi type or tibial muscular dystrophy.
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PMID:Early onset distal muscular dystrophy. 757 62

It has recently been shown that merosin, an extracellular matrix protein linked to the dystrophin-associated glycoproteins, is deficient in a proportion of patients with classical congenital muscular dystrophy (CMD). We have undertaken a detailed study of the clinical features and brain imaging in 24 cases of CMD in relation to the merosin status. Immunocytochemistry showed that merosin was present in 13 cases and markedly deficient in 11. In the merosin-positive cases, the maximum motor achievement was independent walking in 11, walking with support in one and sitting unsupported in one (currently 18 months old). In contrast, none of the merosin-deficient cases achieved independent ambulation. Two achieved walking with support, nine standing with support. In addition, nine of the 11 merosin-deficient cases had a creatine kinase level greater than 2000 whereas only one merosin-positive case had this degree of elevation. Magnetic resonance imaging of the brain was carried out on 15 of the children. All eight merosin-positive cases had normal scans whereas all seven of the merosin-deficient cases had significant changes in the white matter. This study has demonstrated that children with merosin-deficient CMD have a more severe clinical phenotype and associated white matter changes on brain imaging.
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PMID:Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. 758 Feb 43


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