Literature DB >> 6115310

[Newborn screening for Duchenne muscular dystrophy (author's transl)].

T Grimm.   

Abstract

The technique of screening for Duchenne muscular dystrophy (DMD) is a fairly simple procedure. However, the DMD is an untreatable disease. The advantage of screening is only to prevent other cases of DMD by genetic counselling of families to avoid a second, affected child. the estimated effectiveness of the screening is the prevention of 8,3-15% of the hemizygotes. The false negative cases in screening for carrier detection is 30%. (cut-off-level 120 IU/1). Therefore: No screening for carrier detection, voluntary screening in all newborn males and screening in families at risk and in all boys with potential early signs.

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Year:  1981        PMID: 6115310

Source DB:  PubMed          Journal:  Monatsschr Kinderheilkd        ISSN: 0026-9298            Impact factor:   0.323


  3 in total

1.  Screening for Duchenne muscular dystrophy.

Authors:  R A Smith; M Rogers; D M Bradley; J R Sibert; P S Harper
Journal:  Arch Dis Child       Date:  1989-07       Impact factor: 3.791

2.  Early diagnosis and secondary prevention of Duchenne muscular dystrophy.

Authors:  R A Smith; J R Sibert; S J Wallace; P S Harper
Journal:  Arch Dis Child       Date:  1989-06       Impact factor: 3.791

Review 3.  Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors:  H Moser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

  3 in total

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