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Question
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Which of these patterns of weakness is not seen in dysferlinopathy?
Explanation
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LGMD 2B or dysferlin deficiency is an autosomal recessive LGMD presenting with limb girdle weakness. Another common presentation is with weakness and atrophy of calves (Miyoshi myopathy). In both these presentations, early involvement of gastrocnemius and thigh adductors is seen. Selective involvement of parts of muscle may cause the biceps lump or diamond on thigh sign in LGMD2B and calf head on trophy sign in miyoshi myopathy. Less common presentation is of a distal myopathy with tibialis anterior weakness (DMAT) and asymptomatic elevation of CPK. Axial muscle weakness with rigid spine or camptocormia have also been described. The humero peroneal distribution of weakness is seen in Emery-Dreifuss muscular dystrophy.
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Reference
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Aoki M, Takahashi T. Dysferlinopathy. PMID 20301480
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Option 1
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Is Correct (Option 1):
Limb girdle pattern of weakness
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Option 2
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Is Correct (Option 2):
Humero peroneal weakness
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Option 3
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Is Correct (Option 3):
Distal myopathy with calf weakness
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Option 4
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Is Correct (Option 4):
Distal myopathy with foot drop
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