metabolic myopathies

Question 1

deficiency seen in mcardle’s vs pompe’s

Answer 1

mcardle's = myophosphorylase deficiency
pompe's = acid maltase deficiency

Question 2

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

Answer 2

This is aka second wind phenomenon - mcardle’s

Question 3

which metabolic myopathy has normal NCS

Answer 3

mcardles and pompe

Question 4

which metabolic myopathy has myoglobinuria

Answer 4

mcardle’s

Question 5

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

Answer 5

hyperkalemia = 10-60 minutes
hypokalemia = 12-24 hours

Question 6

which metabolic myopathy has increased CK on biopsy

Answer 6

pompe’s

Question 7

2 types of metabolic myopathies

Answer 7

mcardle’s and pompe’s disease

Question 8

effect of carbohydrate diet on hyper and hypokalemia periodic paralysis

Answer 8

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

Question 9

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

Answer 9

pompe

Question 10

genetics of mcardle’s and pompe’s

Answer 10

both are autosomal recessive

Question 11

which metabolic myopathy is more deadly

Answer 11

pompe –> death by 2 years of age

Question 12

2 types of metabolic myopathies that case periodic paralysis

Answer 12

hypo and hyperkalemia

Question 13

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

Answer 13

mcardles

Question 14

effect of exercise on hypo and hyperkalemia periodic paralysis

Answer 14

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