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  #1  
Old 01-17-2013
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Default Cvs q

A 35-year-old woman presents to the clinic because
of visual problems. She states that she
has always had diffi culty 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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  #2  
Old 01-17-2013
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Default

....totally clueless...........

I guess E is the right option.......
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  #3  
Old 01-18-2013
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Default (A) Borrelia burgdorferi infection

(A) Borrelia burgdorferi infection
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  #4  
Old 01-18-2013
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Quote:
Originally Posted by aknz View Post
A 35-year-old woman presents to the clinic because
of visual problems. She states that she
has always had diffi culty 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
-it seem like friedreic ataxia=ans is(d)
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  #5  
Old 01-18-2013
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D.
I think this is myotonic dystrophy. Cataracts +cardiomyopathy..

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  #6  
Old 01-18-2013
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Default A

Neuropathy n heart block-- most likely lymes
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  #7  
Old 01-18-2013
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Correct ans is: B- Deletion mutation in dystrophin....its Duchenne Muscular Dystrophy( DMD )
Frame-shift mutation is seen in Beckers muscular dystrophy
Trinuleotide repeat expansion is seen in Huntingtons disease
Lyme's disease is not the ansewr in any way
The last option is neither the answer.
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  #8  
Old 01-18-2013
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D .This patient is suffering from myotonic dystrophy, a muscular dystrophy caused by multiple CTG nucleotide repeats within the myotonin protein kinase gene.With successive generations, the number of CTG sequences increases parallel with earlier onset of symptoms and more severe disease (genetic anticipation). This accounts for the likely onset of weakness already in the patient’s son.Patients often present with ptosis and weakness of the facial muscles, giving a characteristic “hatchet face” appearance. Another common presentation is weakness and atrophy of the intrinsic hand muscles and forearm extensors Cardiac abnormalities, particularly disease of the conduction system, can lead to syncopal episodes or even sudden death. Heart block can be progressive, sometimes necessitating placement of a pacemaker. The hallmark of disease is myotonia,which is tonic spasm of affected muscles.Pharmacologic therapy for myotonia includes phenytoin, procainamide, or quinine sulfate,but this does not improve the weakness, cardiac abnormalities, or overall course of the disease.
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