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periodic paralyses and nondystrophic myotonias
Tuesday 5 August 2008
Periodic paralyses and nondystrophic myotonias are all inherited as an autosomal-dominant trait.
Periodic paralyses and nondystrophic myotonias present as episodic weakness or stiffness with an interictal return to an asymptomatic state, which in a few instances may progress to a proximal myopathy.
Most of these diseases undergo symptomatic improvement with acetazolamide, a carbonic anhydrase inhibitor.
Types
hypokalemic periodic paralysis (MIM.170400)
hyperkalemic periodic paralysis (MIM.170500)
paramyotonia congenita (MIM.168300)
myotonia congenita (MIM.255700 and MIM.160800)
potassium-aggravated myotonia (MIM.608390)
Andersen-Tawil syndrome (MIM.170390)
See also
channelopathies
