piter
Forum Elite
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A seven-year-old female presents with progressively worsening difficulty walking over the last six months. In the last few weeks, hand clumsiness and difficulty speaking clearly have appeared, prompting this visit. On examination, the patient's extensor plantar reflex is 2 + ; all others are 1 + 0. Which type of disorder is likely involved?
A. CAG trinucleotide repeat expansion disorder
B. CGG trinucleotide repeat expansion disorder
C. GAA trinucleotide repeat expansion disorder
D. GAC trinucleotide repeat expansion disorder
E. It is not a trinucleotide repeat expansion disorder
Answer with expl., please
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| usmleasr
Forum Guru
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i think it is c.
GAA repeat disorder..which is friedrich's ataxia..
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| piter
Forum Elite
Topics: 34
Posts: 191
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correct, answer is c.
other trinucleotide repeat disorders are
Hintington d-se - CAG
Fragyle X - CGG
Miotonic dystrophy - CTG
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| kalsam
Forum Elite
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Any disorder with GAC repeats????
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| sing
Forum Guru
Topics: 153
Posts: 370
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huntington symptoms start at middle age. fragile x is only in male. what is speical of friedrich and myotonic dystrophy? thanks.
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| meghana jadhav
Forum Elite
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classical symptoms of myotonic dystophy, which include myotonia, muscle wasting, permature frontal balding, testicular atrophy, endocrine disturbances, neuropsychological deficits and cardiac conduction defects.
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megha
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| Malaysian
Forum Guru
Topics: 28
Posts: 778
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Can anyone explain to me how they knew the answer is freidrich's??Whats special about this disease that differentiates it from the other choices?
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| purplepen
Forum Newbie
Topics: 0
Posts: 25
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Who said Fagile X only occurs in male? It is X-linked dominant disease. So female can have it too, as long as one of her X chromosome is with the mutation.
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| Tintin
Forum Junior
Topics: 13
Posts: 59
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Also...Bulbo-Spinal Muscular Atrophy (Kennedy's Syndrome); X-linked; CAG repeats
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| CampNou
Forum Junior
Topics: 0
Posts: 33
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Friedreich's ataxia: gait ataxia, dysarthria, hand clumsiness, loss of sense of position, impaired vibratory sensation, loss of tendon reflex...
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