Humpath.com - Human pathology

Home > E. Pathology by systems > Locomotory system > Muscles > periodic paralyses and nondystrophic myotonias

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