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Diseases » Myotonic Dystrophy » Inheritance
 

Inheritance and Genetics of Myotonic Dystrophy

Genetics of Myotonic Dystrophy:

Myotonic dystrophy is a genetic disorder that is inherited in an autosomal dominant manner. The signs and symptoms of the disease usually get worse as the disease is passed from one generation to the next.

Myotonic Dystrophy: Genetics Information

Genetics of Myotonic Dystrophy: The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role.

An unusual feature of this illness is that its symptoms usually become more severe with each successive generation. This is because mistakes in the faithful copying of the gene from one generation to the next result in the amplification of a genomic 'AGC/CTG triplet repeat', similar to that found in Huntington disease. Unaffected individuals have between 5 and 27 copies of AGC/CTG, myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have an expansion of up to several kilobase pairs. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Myotonic Dystrophy refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.

 

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