Literature DB >> 7135141

Duchenne's muscular dystrophy in six siblings. The case for early diagnosis and neonatal screening.

A Moosa.   

Abstract

Six brothers aged from 15 months to 13 years with confirmed Duchenne's muscular dystrophy are described. The serum creatine kinase levels ranged from 2420 IU/I in the youngest boy to 769 IU/I in the eldest. The diagnosis of Duchenne's muscular dystrophy was only made when the eldest boy was 13 years old, despite the fact that his parents had sought medical advice when he was 5. The importance of early diagnosis, detection of carriers and neonatal screening is discussed in relation to the prevention of Duchenne's muscular dystrophy.

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Year:  1982        PMID: 7135141

Source DB:  PubMed          Journal:  S Afr Med J


  1 in total

Review 1.  Evidence based case report: Assessing developmental delay.

Authors:  J Dorling; A Salt
Journal:  BMJ       Date:  2001-07-21
  1 in total

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