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Myotonic Dystrophy - Paper

Myotonic Dystrophy


is an dominant disorder characterized by
myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and
EKG changes. The discovery that the genetic defect is an amplified
trinucleotide repeat in the 3-prime untranslated region of a protein kinase
gene on chromosome 19 explains many of the unusual features of this
disorder. Problems can range from very mild to very severe even within the
same family, and it is not always obvious who in the family has the gene
alteration. Severity varies with the number of repeats: normal individuals
have from 5 to 30 repeat copies; mildly affected persons, from 50 to 80;
and severely affected individuals, 2,000 or more copies.
The presence of ...

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be explained by the ability of the gene to expand from
generation to generation. Amplification is frequently observed after
parent-to-child transmission, but extreme amplifications are not
transmitted through the male line. This explains anticipation and the
occurrence of the severe congenital form almost exclusively in the
offspring of affected women.

Congenital Myotonic Dystrophy

Congenital myotonic dystrophy is the early childhood form of
myotonic dystrophy (also known as Steinert's disease). Usually in myotonic
dystrophy the symptoms begin to show in childhood or later in life, but
symptoms of congenital myotonic dystrophy are evident from birth. It occurs
only when the mother already has myotonic dystrophy and she passes it on to
the child in a more severe form. Congenital means "from birth" because the
condition is usually identified at birth or soon after; myotonic means
"involving muscle stiffness"; and dystrophy is "muscle wasting and
weakness". Symptoms:
Often babies ...

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Myotonic Dystrophy. (2007, November 26). Retrieved May 2, 2024, from http://www.essayworld.com/essays/Myotonic-Dystrophy/74916
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"Myotonic Dystrophy." Essayworld.com. November 26, 2007. Accessed May 2, 2024. http://www.essayworld.com/essays/Myotonic-Dystrophy/74916.
"Myotonic Dystrophy." Essayworld.com. November 26, 2007. Accessed May 2, 2024. http://www.essayworld.com/essays/Myotonic-Dystrophy/74916.
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PAPER DETAILS
Added: 11/26/2007 04:21:13 PM
Category: Health & Medicine
Type: Premium Paper
Words: 598
Pages: 3

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