Spinal muscular atrophy risk factor

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview

 * ~98% of parents of an affected child are carriers. Whereas, the rest of 2% that are not carriers have denovo mutation.


 * The pattern of inheritance is autosomal recessive in SMA. The risk of occurrence/recurrence if both the parents are carriers is 25%, while the risk of having an unaffected carrier child is 50%.

This means that in every pregnancy there is
 * 1 chance in 4 (25% chance) that they will have a child who inherits both copies of the mutated gene. So, there will be no working gene product in the child and he/she will be affected by the condition.
 * 1 chance in 4 (25% chance) that their child will inherit both copies of the working gene and will be unaffected by the condition
 * 1 chance in 2 (i.e. 2 chances in 4; 50% chance) that their child will inherit the mutated gene and the working copy of the gene from each parent and he/she will be an unaffected carrier of the faulty gene, just like the parents i.e. carrier for the condition