What is the pathophysiology of myopathies?

Updated: Dec 28, 2017
  • Author: Courtney A Bethel, MD, MPH; Chief Editor: Barry E Brenner, MD, PhD, FACEP  more...
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Answer

Most congenital myopathies or inherited myopathies are chronic slowly progressive diseases. The emergency physician rarely attends to a patient specifically to treat congenital myopathy unless acute deterioration occurs. Emergency physicians attend to patients with metabolic, [1] inflammatory, endocrine, and toxic causes of myopathy more often than those with congenital causes because of the acute or subacute onset of symptoms associated with noncongenital forms. [2]

Periodic paralyses are a group of diseases that cause patients to present with acute weakness due to potassium shifts, leading to muscle dysfunction. A genetic defect of the sodium ion channel in muscle cell membranes is responsible for the paralysis, which may last from hours to days.


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