Japanese Journal of National Medical Services
Online ISSN : 1884-8729
Print ISSN : 0021-1699
ISSN-L : 0021-1699
GENETIC COUNSELING FOR DUCHENNE MUSCULAR DYSTROPHY
Mitsuru YAMADA
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JOURNAL FREE ACCESS

1985 Volume 39 Issue 2 Pages 151-156

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Abstract
Our several examples of genetic counseling for Duchenne Muscular Dystrophy (DMD) were demonstrated.
Main points were suggested as follows:
1. So-called carriers are not so simple, patients with DMD do not always develop even frotn definite carriers. Especially in the case whose father shows such enzyme abnor-mality as CPK, ALD, healthy sons without DMD are also born at higher rate. We sup-pose that paternity must be deeply correlated.
2. In most occasions, clients have patients with DMD in their pedigree, and they ask us whether there are any problems about their marriage and having children. Counselor must be reliable and persuasive enough to make them realize the real situation with rea-sonable judgement.
Some clients are nervous and pessimistic even though their probability of having children with DMD is none or very low. It is of great importance and actually a good treatment for them to encourage and help and explain them that they are at no risk.
3. When mother of the carrier becomes pregnant, I think it's very inhuman to inter-rupt all male fetus by amniocentesis. It would be desirable and helpful to make accurate judgement based on an experienced case study by lots of carrier detection data including paternal side.
4. Presence of patients with DMD in inpatient or outpatient clinic itself may be an unknowing and incidental event from the standpoint of poor technique for the detection of carrier and for the genetic counseling.
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© Japanese Society of National Medical Services
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