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What presents with calf pseudohypertrophy?
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muscular dystrophy (most commonly Duchenne): X–linked recessive deletion of dystrophin gene
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What presents with "cherry–red spots" on macula
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Tay–Sachs (ganglioside accumulation) or Niemann–Pick (sphingomyelin accumulation), central retinal artery occlusion
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What presents with chest pain on exertion?
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angina (stable: w/ moderate exertion; unstable: w/ minimal exertion)
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What presents with chest pain, pericardial effusion/friction rub, and persistent fever following MI?
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Dressler syndrome (autoimmune–mediated post–MI fibrinous pericarditis, 1–12 wks after acute episode)
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What presents with child using arms to stand up from squat?
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Gowers sign (Duchenne muscular dystrophy)
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What presents with child w/ fever later develops red rash on face that spreads to body?
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"slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)
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What presents with chorea, dementia, caudate degeneration?
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Huntington disease (auto dom CAG repeat expansion)
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What presents with chronic exercise intolerance w/ myalgia, fatigue, painful cramps, myoglobinuria?
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McArdle disease (muscle glycogen phosphorylase deficiency)
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What presents with cold intolerance?
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hypothyroidism
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What presents with conjugate lateral gaze palsy, horizontal diplopia?
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internuclear opthalmoplegia (damage to MLF; bilateral [multiple sclerosis]; unilateral [stroke])
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