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Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess

Lauren Bogue1, Sindhu Ramchandren1

  • 1Parent Project Muscular Dystrophy (L.B.), Hackensack, NJ; and Department of Neurology (L.B., S.R.), University of Michigan, Ann Arbor.

Neurology. Genetics
|October 21, 2016
PubMed

Carrier risk assessment for Duchenne muscular dystrophy (DMD) is necessary to counsel women at risks of developing cardiomyopathy and having a child with DMD. Comprehensive molecular testing for dystrophin gene mutations has only been available since 20031; women counseled earlier have outdated risk assessments. We present a 5-generation family in whom results of familial mutation testing for DMD newly identified 10 obligate carriers and 28 women at risk to be carriers for DMD.

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