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ID 16930

The Inheritance Pattern of SMA

Dr. Charlotte Sumner describes how SMA is inherited.
The other aspect that's very important about this disease, spinal muscular atrophy is that it's an inherited disorder. It's inherited in what we call an autosomal recessive fashion and when a disease is autosomal recessive, it means that both copies of the gene that we have, have to be misspelled. We inherit one of those misspelled copies of the gene what we call mutated gene from and the other one from dad. And a child who develops SMA has two misspelled copies of that gene and will develop the disease. For two parents who are both carriers for SMA their risk each time of having a child with SMA is 25%, so one in four and that risk continues for each child that they might have.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Inherit, recessive, mutation, deletion, chromosome, risk, chance, probability, Hopkins, john Hopkins, 25%
Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

Related content:

16931. 2D Animation of Genes and Inheritance
An animation introduces DNA and the pattern of inheritance for SMA.
16910. Cause of SMA
Dr. Sumner explains what causes SMA.
16948. Alternative RNA Splicing Therapy for Spinal Muscular Atrophy
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
16950. 2D Animation of Antisense Oligonucleotide Therapy for SMA
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
16941. 2D Animation of Alternative RNA Splicing
An animation shows alternate splicing of the SMN2 gene.
16938. 3D Animation of RNA Splicing
An animation of the crucial RNA editing step called splicing.
16933. 3D Animation of DNA to RNA to Protein
An animation shows how the DNA genetic “code” is made into protein.
16911. A simple description of the cause of SMA
Frank, an SMA parent, describes the genetics of SMA.
16909. Introduction to SMA
Dr. De Vivo provides an overview of SMA, and describes the four SMA types.
16947. Small Molecule Therapy for SMA
Dr. Sumner describes small molecule therapies for SMA.
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