Werding Hoffman Disease

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Werding Hoffman disease frequency & Future pregnancy ! Introduction : Werding Hoffman disease is the most sever type of the spinal muscular atrophy disease ( SMA ) . It is an autosomal recessive disorder characterized by progressive damage of the anterior horn cells of the spinal cord leading to progressive muscle weakness and generalized atrophy . It is caused mainly by homozygous defect in gene called Survival Motor Neuron 1 ( SMN 1 ) .SMA type 1 is one of the most serious fatal disorder that has high prevalence rate & high carrier frequency .Therefore, carrier testing for SMA is very important to be offered to all couples especially parents of SMA affected children. This test will help in future reproductive planning. Aim of work: To
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