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)

Serum creatine kinase levels were determined in 75 girls (age range, one month to 15 years) and 200 normal adult women (age range, 18 to 50 years). The values ranged from 12.5 to 80 IU/1 in girls and 19 to 155 IU/1 in adult females. The SCK level appeared to increase with age from 1 to 15 years, after which the level remained fairly constant. These data should be helpful in the detection of carriers of X-linked forms of muscular dystrophy.
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PMID:Serum creatine kinase levels in normal females. 46 86

The systematic seek of an increased activity of the SCK among all newborns has permitted the detection of the Duchenne-type muscular dystrophy in the "Rhone-alpes" area. By the survey of 40,000 births during 5 years and the detection of 16 Duchenne-type muscular dystrophies the authors estimate the incidence of DMD at 1/6500 living new born boys. The number of false positives (1,5 p. 1000) is little and, up to now, no false negative has been recorded. A few boys and girls keep and increased activity of the SCK, and 3 boys hae a Becker-type muscular dystrophy.
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PMID:[Neonatal screening for duchenne myopathy by serum elevation of creatine phosphokinase activity. 5 years experience]. 733 42

Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy affecting adults and is due to trinucleotide sequence (CTG) in the 3' UTR region of DMPK gene located at 19q13.3 chromosome. The pathogenic mechanisms of multisystemic involvement of DM1 are still unclear. The increased levels of reactive oxygen species/free radicals and lipid peroxides and decreased antioxidant levels play an important role in the pathogenesis of DM1. Present study includes 20 DM1 patients and 40 age- and sex-matched controls. Malonilaldehyde (MDA), superoxide dismutase (SOD), glutathione peroxidise (GPX), glutathione-S-transferase (GST), reduced glutathione (GSH), and TAS levels were measured and its association with clinical phenotype were evaluated. Results revealed significantly higher levels of MDA (p = 0.002), SOD (p = 0.006), and TAS p = 0.004) and lower level of GPX (p = 0.003), GST (P < 0.001) and GSH (P = 0.016) in DM1 patients. A significant negative correlation of MDA level with dyspepsia and CK-MB and GST level with serum SCK, CK-MB, and diabetes were observed. However, a significant positive correlation of SOD level with serum CK-MB, CK-MM, and diabetes and negative correlation with facial weakness were noted. Though, GSH level had significant positive correlation with learning and writing disability, speech, and languages disability yet found negative correlation with duration of disease. The GPX and TAS showed no correlation with any clinical findings. Our data further support the pathogenic role of oxidative stress in DM1 of Indian origin and support the opportunity to undertake clinical trials with antioxidants in this disorder.
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PMID:Imbalanced oxidant and antioxidant ratio in myotonic dystrophy type 1. 2447 45