metabolic myopathies Flashcards
deficiency seen in mcardle’s vs pompe’s
mcardle's = myophosphorylase deficiency pompe's = acid maltase deficiency
which metabolic myopathy is characterized by improvement in Sx with brief rest
This is aka second wind phenomenon - mcardle’s
which metabolic myopathy has normal NCS
mcardles and pompe
which metabolic myopathy has myoglobinuria
mcardle’s
which one has a longer lasting paralysis attack? hyper or hypokalemia periodic paralysis
hyperkalemia = 10-60 minutes hypokalemia = 12-24 hours
which metabolic myopathy has increased CK on biopsy
pompe’s
2 types of metabolic myopathies
mcardle’s and pompe’s disease
effect of carbohydrate diet on hyper and hypokalemia periodic paralysis
hyperkalemia periodic paralysis is treated with a high carbohydrate diet.
hypokalemia periodic paralysis is exacerbated with a high carbohydrate diet.
which metabolic myopathy is characterized by cardiomegaly and hepatomegaly and large tonge
pompe
genetics of mcardle’s and pompe’s
both are autosomal recessive
which metabolic myopathy is more deadly
pompe –> death by 2 years of age
2 types of metabolic myopathies that case periodic paralysis
hypo and hyperkalemia
which metabolic myopathy can result in myolysis, renal failure and death with strenuous exercise
mcardles
effect of exercise on hypo and hyperkalemia periodic paralysis
exercise makes it better. paralysis is exacerbated with rest after exercise