hyperkalemic periodic paralysis , HYPP (Abkürzung)
Gamstorp episodic adynamy

This disease can also present as hyperkalemic periodic paralysis and there is debate as to whether the two disorders are actually distinct.

Although much less publicized, Hyperkalemic Periodic Paralysis has also been observed in humans.

The isolation of the gene that causes the disease, hyperkalemic periodic paralysis, is the first for an important disorder of pedigreed horses.

Some people with Hyperkalemic Periodic Paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks.

This means people with both hyperkalemic periodic paralysis and paramyotonia congenita can have attacks with fluctuations of potassium up or down.

HYPP: getting to grips with Hyperkalemic Periodic Paralysis - Horsetalk.

Hyperkalemic periodic paralysis (HYPP)

Impressive is also notorious as the primary source of the widespread genetic disease known as Hyperkalemic periodic paralysis (HYPP).

Hyperkalemic periodic paralysis (HYPP), which is caused by an autosomal dominant gene linked to the stallion Impressive.

Mutations in the gene are associated with hypokalemic periodic paralysis, hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia.

In contrast, hyperkalemic periodic paralysis refers to gain-of-function mutations in sodium channels that maintain muscle depolarisation and therefore are aggravated by high potassium ion concentrations.

Patients with the rare hereditary condition of hyperkalemic periodic paralysis appear to have a heightened muscular sensitivity that is associated with transient elevation of potassium levels.

Paramyotonia congenita (as well as hyperkalemic periodic paralysis and the potassium-aggravated myotonias) is caused by mutations in a sodium channel, SCN4A.

Acetazolamide ("Acet") is used for treating horses with the genetic disease hyperkalemic periodic paralysis (HYPP), and prevents affected animals from having seizures.

In 1992, for example, researchers discovered a gene mutation responsible for a peculiar muscle ailment in pedigreed quarter horses - hyperkalemic periodic paralysis or HYPP.

In hyperkalemic periodic paralysis, mutations occur in residues between transmembrane domains III and IV which make up the fast inactivation gate of Na1.4.

Provoking an attack with exercise and diet then trying oral potassium can be diagnostic, but also dangerous as this form of PP has an alternate form known as hyperkalemic periodic paralysis.

Hyperkalemic periodic paralysis (HYPP, HyperKPP) is a genetic disorder which occurs in both humans and horses, where it is also known as Impressive Syndrome.

Clinicians may also attempt to provoke episodes or myotonia and weakness/paralysis in patients in order to determine whether the patient has PC, hyperkalemic periodic paralysis, or one of the potassium-aggravated myotonias.

Pope HG Jr, Hudson JI, Poskanzer D, Yurgelun-Todd D. Familial hyperkalemic periodic paralysis and bipolar disorder: a linkage and treatment study.

Originally thought to be separate from hyperkalemic periodic paralysis and the sodium channel myotonias, there is now considerable disagreement as to whether these disorders represent separate entities or overlapping phenotypes of a complex disorder spectrum.

The genes for the construction of ion channels are highly conserved amongst mammals and one condition, hyperkalemic periodic paralysis, was first identified in the descendants of Impressive, a registered Quarter Horse (see AQHA website).

Although Impressive was not known to have exhibited any symptoms of the disease himself, gradually it became evident that many horses tracing to Impressive were afflicted with the painful, alarming, and often fatal disease Hyperkalemic periodic paralysis (HYPP).

Currently, AQHA is in the process of phasing out registration of horses who carry the dominant genetic disease Hyperkalemic Periodic Paralysis (HYPP) and sponsored research that, in 2007, developed a genetic test for HERDA.

It is most commonly associated with horses, but also occurs in humans, where it may be called Gamstorp episodic adynamy.