[Muscular dystrophy].
The muscular dystrophies are a genetically heterogeneous group of progressive disorders that lead to the breakdown of the integrity of skeletal muscle. Numerous recent advances made in research into the molecular genetics of muscular dystrophy have highlighted the diversity of this family of disorders. Muscle biopsy allows the immunohistochemical analysis of various muscle specific proteins, and can provide important data enabling definitive diagnosis. Muscle biopsy is not always necessary, such as in the case of Duchenne or Fukuyama type dystrophies, which are relatively easy to diagnose by genetic testing; in such cases, however, consideration must given to the ethical implications of testing. The future promises the development of new therapeutic approaches and clinical applications based on genetic diagnostic data.
Kondo
Eri
E
Department of Pediatrics, Tokyo Women' s Medical University.
Saito
Kayoko
K
Osawa
Makiko
M
D005821:Genetic Techniques; D006801:Humans; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*