Friedreich's Ataxia

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Friedreich's Ataxia

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7 Posts

daira
Forum Senior

Topics: 29
Posts: 138

08/01/04 - 02:45 PM

WOF is true:

a. Its an autosomal dominant disorder
b. It is caused by increase in number of CAG trinucleotide repeats
c. Charactarized by onset in sixth decade of life.
d. Clinical characteristic often include both blindenss and deafness.
e. Skeletal deformityare a rare finding in pts with F. ataxia.

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usmleasr
Forum Guru

Topics: 105
Posts: 970

08/01/04 - 03:13 PM

i guess it is A..autosomal dominant..caused by GAA repeats :roll:

dimps
Forum Guru

Topics: 63
Posts: 446

08/01/04 - 05:09 PM

i think answer is D
it is an autosomal recessive disorder
age ---7-13 yrs
most pt present with skeletal deformities
repeat is GAA

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asmi
Forum Hero

Topics: 1043
Posts: 4,609

08/01/04 - 07:33 PM

i think it is D

asmi
Forum Hero

Topics: 1043
Posts: 4,609

08/01/04 - 09:59 PM

where is the defect in this disease ?

lucky
Forum Guru

Topics: 23
Posts: 505

08/02/04 - 02:37 AM

defect is in:
loss of cells in the posterior root ganglia
degeneration of peripheral sensory fibres.
posterior and lateral columns of cord are effected.

daira
Forum Senior

Topics: 29
Posts: 138

08/03/04 - 02:01 PM

answer D. Good job.

___________________
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lout kar phir waheen aa jata hoon
baaraha tor chuka hoon jinko
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