metabolic myopathies Flashcards

1
Q

deficiency seen in mcardle’s vs pompe’s

A
mcardle's = myophosphorylase deficiency
pompe's = acid maltase deficiency
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2
Q

which metabolic myopathy is characterized by improvement in Sx with brief rest

A

This is aka second wind phenomenon - mcardle’s

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3
Q

which metabolic myopathy has normal NCS

A

mcardles and pompe

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4
Q

which metabolic myopathy has myoglobinuria

A

mcardle’s

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5
Q

which one has a longer lasting paralysis attack? hyper or hypokalemia periodic paralysis

A
hyperkalemia = 10-60 minutes
hypokalemia = 12-24 hours
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6
Q

which metabolic myopathy has increased CK on biopsy

A

pompe’s

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7
Q

2 types of metabolic myopathies

A

mcardle’s and pompe’s disease

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8
Q

effect of carbohydrate diet on hyper and hypokalemia periodic paralysis

A

hyperkalemia periodic paralysis is treated with a high carbohydrate diet.
hypokalemia periodic paralysis is exacerbated with a high carbohydrate diet.

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9
Q

which metabolic myopathy is characterized by cardiomegaly and hepatomegaly and large tonge

A

pompe

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10
Q

genetics of mcardle’s and pompe’s

A

both are autosomal recessive

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11
Q

which metabolic myopathy is more deadly

A

pompe –> death by 2 years of age

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12
Q

2 types of metabolic myopathies that case periodic paralysis

A

hypo and hyperkalemia

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13
Q

which metabolic myopathy can result in myolysis, renal failure and death with strenuous exercise

A

mcardles

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14
Q

effect of exercise on hypo and hyperkalemia periodic paralysis

A

exercise makes it better. paralysis is exacerbated with rest after exercise

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