Weingarten
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Warning: another spoiler for those who intend to take the first basic science NBME practice exam... I've been looking for an answer to this question for way too long, without success. The question described a woman with decreased facial expression and mild weakness who gave birth to a female child with profound hypotonia. The question asked why there was a difference in presentation between the mother and child. I don't remember all the answers, but I thought it was a toss-up between "anticipation" and "pleiotropy." I've been looking through the mitochondrial myopathies (thinking pleiotropy; oops, nevermind, I was thinking of heteroplasmy, just realized that) trying to find something that fit the description, but I can't. The only neural diseases I can think of off the top of my head that are trinucleotide repeats (thinking anticipation) are Huntington's and Fragile X. I've found some info on FX that says it can cause hypotonia, but neither of those diseases really fits the clinical picture. Any thoughts? Thanks, -- David
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| ssrpk
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Werdnig-Hoffmann disease , Spinal muyscular atrophy typeI ,destruction oif anterior horn cells in spinal cord, autosomal recessive disorder!
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| study_ing
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and whats the cause of the dif in presentation??
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| vallia
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another trinucleotide repeat disorder is myotonic dystrophy (CTG repeats)
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| study_ing
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thanx vallia...i think the a trinucleotide repeat disorder is more likely than an AR one ciz that wud explain the dif in scenario..wud appreciate ur input on it ssrpk please
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