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Spinal Muscular Atrophy

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal recessive inheritance

Prenatal diagnosis
The gene for all childhood onset Spinal Muscular Atrophies which maps to chromosome 5, has been identified and named the survival motor neurone (SMN) gene. Mutations in the gene are present in almost all cases, particularly Type 1 and 2, and also provide an accurate means of prenatal diagnosis by chorionic villus sampling during early pregnancy.

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Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated January 2004 by Professor Francesco Muntoni, Professor of Paediatric Neurology, Imperial College London, London, UK.

 

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