[Duchenne-type muscular dystrophy: problems, early diagnosis, early treatment (author's transl)]. 1978

R Beckmann

The aetiology and pathogenesis of the Duchenne-type muscular dystrophy (pseudohypertrophic muscular dystrophy) are still largely unknown. The possibilities of treating the disease are rather limited. Treatment is the more successful, the earlier diagnosis was possible, and the earlier treatment is initiated. The CK-Screening Test is an important aid for early diagnosis. The CK-Screening Test is also valuable for genetic consultation and advice, because it helps to identify women who are conductors or carriers of the disease. Current hypotheses on aetiology and pathogenesis are mentioned. Progress made in the fields of biochemistry, including enzyme histochemistry, and electron microscopy, raise hopes of finding more efficient therapeutic possibilities in the future. The many interests of patients with muscular diseases are being looked after by the European Alliance of Muscular Dystrophy Associations (EAMDA). Thirteen European associations are members of this organisation, including the German association "Bekämpfung der Muskelkrankheiten e.V." The number of sponsoring members of the EAMDA is at present about 300,000. 3 international congresses have already been held on the problems of muscular diseases. The fourth congress is scheduled to take place in Montreal in 1978.

UI MeSH Term Description Entries
D007360 Intelligence The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
D008297 Male Males
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003402 Creatine Kinase A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins. Creatine Phosphokinase,ADP Phosphocreatine Phosphotransferase,ATP Creatine Phosphotransferase,Macro-Creatine Kinase,Creatine Phosphotransferase, ATP,Kinase, Creatine,Macro Creatine Kinase,Phosphocreatine Phosphotransferase, ADP,Phosphokinase, Creatine,Phosphotransferase, ADP Phosphocreatine,Phosphotransferase, ATP Creatine
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013997 Time Factors Elements of limited time intervals, contributing to particular results or situations. Time Series,Factor, Time,Time Factor

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