Spinal muscular atrophy risk factor: Difference between revisions
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'''Editors-in-Chief:''' [[C. Michael Gibson, M.S., M.D.]]; [[Priyamvada Singh]], [[MBBS]] | '''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. | *~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%. | *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 | This means that in '''every pregnancy''' there is | ||
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* 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 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 | * 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 | ||
==References== | |||
{{Reflist|2}} | |||
[[Category:Motor neuron disease]] | [[Category:Motor neuron disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Revision as of 14:33, 28 January 2012
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Spinal Muscular Atrophy Microchapters |
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Spinal muscular atrophy risk factor Resources |
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Ongoing Trials on Spinal muscular atrophy risk factor at Clinical Trials.gov |
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US National Guidelines Clearinghouse on Spinal muscular atrophy risk factor |
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Directions to Hospitals Treating Spinal muscular atrophy risk factor |
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Risk calculators and risk factors for 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