jean robert
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A 2 months old XY is brought to the emergency department with respiratory insufficiency and failure to thrive after an uneventful pregnancy and perinatal course.Generalized hypotonia and weakness are noted. The patient s hospital stay is remarkable for development of tracheobronchomalacia and respiratory insufficiency that requires mechanical ventilation before the patient dies of respiratory complications. Muscle biopsy shows denervation and panfascicular atrophy. The patient s family history demonstrates other occurrences of similar disease. A genetics consult obtained prior to the patient s death reveals the disease is inherited in autosomal recessive form. Which of the following diseases is most consistent with this patient s presentation?
a) Becker s muscular dystrophy
b) Duchenne s muscular dystrophy
c) Kugelberg –Welander disease
d) Spinal muscular atrophy type II
e) Werdnig –Hoffmann disease
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| angel23
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E)werdnig -hoffmann disease....
i dint knew this but searched and this helped me out....
http://www.fsma.org/booklet.shtml#diagnosing
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| Tiff
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e - Werdnig
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| Tiff
Forum Guru
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angel -
I knew it was Werdnig Hoffman, but was unfamiliar with the types of Spinal Muscular Atrophy. And 2 of them are listed in the answer choices. So thanks for the link.
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| new_n_lost
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have no clue but on a guess would go for C or E will play Eenie minnie mo and whatever gets chosen will be the answer. 
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