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Old 09-25-2012
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Question Pathogenesis of this disorder

A 35-year-old woman presents to the clinic because of visual problems. She states that she has always had difficulty looking up, and over the past few years her overall vision has become blurry. Review of symptoms is notable for several recent episodes of “near fainting.” She takes no medication and has no other medical history, and has not seen a physician for 7 years. Because she was adopted as a child, she does not know her family history, but her son has required special tutoring at school. The patient also remarks that her son seems to have been dropping objects lately. Physical examination reveals bilateral ptosis. Her extraocular movements are intact and the pupils are equal, round, and reactive. Her corrected visual acuity is 20/100 in the right eye and 20/120 in the left eye. The view of the fundus is obscured. On ambulation she raises her knees and makes a slapping sound on the fl oor as she walks. ECG indicates heart block. What is the pathogenesis of this patient’s disorder?

(A) Borrelia burgdorferi infection
(B) Deletion mutation in dystrophin
(C) Frameshift mutation in dystrophin
(D) Trinucleotide repeat expansion
(E) X-linked emerin deficiency
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Old 09-25-2012
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is it freidrichs ataxia?i will go with D
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(D) Trinucleotide repeat expansion
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Quote:
Originally Posted by sonu.agarwall View Post
is it freidrichs ataxia?i will go with D
its myotonic dystrophy
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D
She will die of dilated cardiomyopathy
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LOl I also thought she had friederich, the answer is still D, it is CTG triple repeat and is also an autosomal dominant disease like huntington

But the most common cause of death in these patients is not cardiomyopathy, but a combination between infections and heart block
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yes sorry foot drop suggests myotonic
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