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Encyclopedia > HYPP
Hyperkalemic periodic paralysis
Classification & external resources
ICD-9 359.3
OMIM 170500
DiseasesDB 6252
MeSH D020513

Hyperkalemic periodic paralysis (HYPP), also known as Impressive Syndrome, is an inherited autosomal dominant disorder which affects sodium channels in muscle cells and the ability to regulate potassium levels in the blood. It is most commonly associated with horses, but also occurs in humans. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... A genetic disorder, or genetic disease is a disease caused, at least in part, by the genes of the person with the disease. ... An autosome is a non-sex chromosome. ... Ion channels are present in the membranes that surround all biological cells. ... A top-down view of skeletal muscle Muscle (from Latin musculus little mouse [1]) is contractile tissue of the body and is derived from the mesodermal layer of embryonic germ cells. ... General Name, Symbol, Number potassium, K, 19 Chemical series alkali metals Group, Period, Block 1, 4, s Appearance silvery white Standard atomic weight 39. ... Human blood smear: a - erythrocytes; b - neutrophil; c - eosinophil; d - lymphocyte. ... horse, see Horse (disambiguation). ... Human beings are defined variously in biological, spiritual, and cultural terms, or in combinations thereof. ...

Contents

Disease in horses

Symptoms and presentation

This inherited disease is characterized by uncontrollable muscle twitching and substantial muscle weakness or paralysis among affected horses. HYPP is a dominant disorder; therefore heterozygotes bred to genotypically normal horses will still likely produce clinically affected offspring 50% of the time. A fasciculation (or muscle twitching) is a small, local, involuntary muscle contraction (twitching) visible under the skin arising from the spontaneous discharge of a bundle of skeletal muscle fibres. ... Muscle weakness (or lack of strength) is a general term used during a diagnosis before the etiology can be identified. ... Paralysis is the complete loss of muscle function for one or more muscle groups. ... It has been suggested that this article be split into multiple articles accessible from a disambiguation page. ... This article does not cite its references or sources. ...


Inheritance and prevalence

Horses affected with HYPP can be treated with some possibility of reducing symptoms, but the degree that medical treatment helps varies from horse to horse. Therefore, horses with HYPP should only be ridden by experienced riders, if anyone, because episodes of paralysis can come on very suddenly and a rider has to be extremely alert to recognize an impending episode which may cause the horse to lose control of its body.


The disease is most common in the bloodline of the famous Appendix American Quarter Horse stallion Impressive, who has over 55,000 living descendants as of 2003. Although the disease is primarily limited to the American Quarter Horse breed and closely related breeds such as American Paint Horses and Appaloosas at this time, cross-breeding has begun to extend it to grade horses and ponies. The spread of the disease is perpetuated by the favorable judgings given to diseased horses in showing, due to the extreme extra large, bulky muscles the N/H and H/H horses carry, (as opposed to the N/N horses), that judges favor. A palomino Quarter Horse shown in-hand. ... Impressive (4/15/1968 - 3/20/1995) is an Appendix American Quarter Horse with royal thoroughbred breeding on both sides. ... 2003 is a common year starting on Wednesday of the Gregorian calendar, and also: The International Year of Freshwater The European Disability Year Events January events January 1 Luíz Inácio Lula Da Silva becomes the 37th President of Brazil. ... It has been suggested that Breeding Stock Paint be merged into this article or section. ... An Appaloosa horse The Appaloosa is a horse breed with a color preference. ...


Genetics

In 1994, researchers at the University of Pittsburgh, with a grant from various horse organizations, isolated the genetic mutation responsible for the problem and developed a blood test for it. Using this test, horses may be identified as: The University of Pittsburgh, commonly referred to as Pitt, is a state-related, doctoral/research university in Pittsburgh, Pennsylvania, United States. ... Blood tests are laboratory tests done on blood to gain an appreciation of disease states and the function of organs. ...

  • H/H, meaning they have the mutation and it is homozygous. These horses always pass on the disease.
  • N/H, meaning they have the mutation and it is heterozygous. These horses are affected to a lesser degree, and pass on the disease 50% of the time.
  • N/N, meaning they do not have the mutation and cannot pass it on, even if they are descendants of Impressive.

It has been suggested that this article be split into multiple articles accessible from a disambiguation page. ... It has been suggested that this article be split into multiple articles accessible from a disambiguation page. ...

Regulation

Recently, horse organizations have begun instituting rules to attempt to eliminate this widespread disease. The American Quarter Horse Association (AQHA) now mandates testing for the "Impressive" mutation and will no longer register homozygous (H/H) foals as of 2007, with discussion of heterozygous (N/H) foals pending. The Appaloosa Association will no longer accept homozygous foals as of 2008. It is believed that both primary palomino registries will exclude any foal carrying the "Impressive" mutation as of 2007. The main organization affected by HYPP that has not yet taken action is the American Paint Horse Association (APHA), although many other smaller organizations are also affected. The American Quarter Horse Association (AQHA), based in Amarillo, Texas, is an international organization dedicated to the preservation, improvement and record-keeping of the American Quarter Horse, a breed of horses known throughout the globe for endurance, performance, conformation, and pedigree. ... It has been suggested that this article be split into multiple articles accessible from a disambiguation page. ... 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the CE era. ... It has been suggested that this article be split into multiple articles accessible from a disambiguation page. ... 2008 (MMVIII) will be a leap year starting on Tuesday of the Gregorian calendar. ... 2007 (MMVII) is the current year, a common year starting on Monday of the Gregorian calendar and the CE era. ...


Disease in humans

Although much rarer, hyperkalemic periodic paralysis has also been observed in humans. In humans the disorder causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and periods of fasting. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness (myotonia), particularly in muscles of the face and hands.


Some people with hyperkalemic periodic paralysis have increased levels of potassium in their blood (hyperkalemia) during attacks. In other cases, attacks are associated with normal blood potassium levels (normokalemia). Ingesting potassium can trigger attacks in affected individuals, even if blood potassium levels do not go up. Hyperkalemia is an elevated blood level (above 5. ...


The most common underlying cause is one of several possible point mutations in the gene SCN4A. The SCN4A gene provides instructions for making a protein that plays an essential role in muscles used for movement (skeletal muscles). For the body to move normally, these muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of certain positively charged atoms (ions), including sodium, into muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells. Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot properly regulate the flow of sodium ions into muscle cells, which reduces the ability of skeletal muscles to contract. Because muscle contraction is needed for movement, a disruption in normal ion transport leads to episodes of muscle weakness or paralysis. A point mutation, or substitution, is a type of mutation that causes the replacement of a single base nucleotide with another nucleotide. ... For a non-technical introduction to the topic, see Introduction to Genetics. ... SCN4A is a sodium ion channel associated with hyperkalemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia. ...


This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. It has been suggested that this article or section be merged into Dominance relationship. ...


References

External links

  • http://www.j-swf.com/NNFuturity.html
  • UC Davis VGL: HYPP genetic test information page
  • UC Davis VGL: Current Facts About Hyperkalemic Periodic Paralysis (HYPP) Disease
  • Bringing Light to HyPP
  • Purdue Animal Disease Diagnostic Laboratory: HYPP - Still With Us

  Results from FactBites:
 
Cracking the Horse's Genetic Code (1396 words)
Breeders' cooperation and honesty are essential to the success of a study passed on pedigree analysis, and interpreting pedigree information is tricky.
Long suspected to be a familial disease, HYPP causes muscle tremors in horses, sometimes leading to "dog sitting," complete paralysis and even death.
What made the HYPP test possible, and what promises to unlock the doors to many other equine genetic disorders, is the breathtaking pace of human genetic research.
  More results at FactBites »


 

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