Equis ISSN 2398-2977

Muscle: hyperkalemic periodic paralysis

Synonym(s): HPP, HYPP, HKPP, Impressive syndrome

Contributor(s): Steve Adair, Frank Andrews, Nicola Menzies-Gow, Prof Jonathon Naylor, Vetstream Ltd

Introduction

  • An autosomal codominant genetic disease of Quarterhorses   Quarterhorse  ; genetic testing suggests one particular hereditary line implicated.
  • Cause: point mutation in skeletal muscle sodium channel.
  • Signs: periodic muscle weakness; fasciculations, spasm; involuntary recumbency, stridor.
  • Diagnosis: clinical signs, blood potassium concentration    Blood: biochemistry - potassium  , electrocardiography (ECG)   Cardiovascular: ECG (electrocardiography)  , electromyography (EMG)   Electrodiagnostic testing  , genetic testing.
  • Treatment: calcium gluconate; sodium bicarbonate and glucose to increase uptake of potassium into cells; low potassium diet to prevent episodes.
  • Prognosis: manageable disorder in most cases.

Pathogenesis

Etiology

  • Cold.
  • Long distance transport.
  • Stress.
  • Stall confinement.
  • High potassium diets.
  • May precipitate an episode of clinical signs.

Specific

  • Bred from 'Impressive' sire line.
  • Homozygotes for gene may have more severe disease than heterozygotes.
  • Most cases reported in heterozygotes.

Pathophysiology

  • Mutated allele of the adult skeletal sodium channel alpha subunit gene   →    amino acid substitution (leucine for phenylalanine)    →    impaired inactivation of the sodium channels   →   hyperkalemia.
  • Normal muscle sodium channels are mostly closed at rest and open in response to depolarization giving rise to the early phase of the activation potential. They close and become inactivated in response to this more marked depolarization and only become responsive again once the cell has returned towards its normal resting potential in response to potassium efflux.
  • In hyperkalemic periodic paralysis, mutant sodium channels are more likely to open at rest, depolarizing the membrane and pushing it closer to the threshold for contraction.
  • This allows potassium to diffuse out of the cell, potentially leading to hyperkalemia.
  • Widespread spontaneous muscle contraction gives rise to clinical signs of fasciculation and spasm of skeletal muscle. If the muscle cells become severely depolarized then the sodium channels remain inactivated, action potentials cannot be generated and weakness ensues.
  • Cooling further depolarizes muscle membranes from horses with hyperkalemic periodic paralysis increasing the likelihood of spontaneous contraction and clinical signs.
  • Hyperkalemia tends to favor development of clinical signs because it reduces the rate at which potassium can leave the cells to repolarize them following activation; it may also directly trigger mutant sodium channels to open.
  • Hyperkalemia is the major serum electrolyte abnormality during attacks and may either result from excessive dietary intake result from potassium release by spontaneously contracting muscle cells.
  • Hyperkalemia is transient, presumably because of renal clearance and redistribution into muscle cells once the attack has passed. Local warming of contracting muscles may favor hyperpolarization.
  • Hyperkalemia may affect other excitable tissues including the heart.

Timecourse

  • Usually manifests in first few days to year of life in homozygotes and at 2-5 years of age in heterozygotes.
  • Episodes last approximately 15-60 min.

Epidemiology

  • Incidence of carriers within Quarterhorse population estimated to be between 0.4% and 4.4%.

Diagnosis

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Treatment

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Prevention

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Outcomes

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Further Reading

Publications

Refereed papers

  • Recent references fromPubMedandVetMedResource.
  • Diakakis N, Spanoudes K & Dessiris A (2008)Hyperkalaemic periodic paralysis-like syndrome in a Criollo Argentino horse.Equine Vet Educ20(8), 396-400VetMedResource.
  • Spier S J & Hoffman E P (2008)Hyperkalaemic periodic paralysis: Mother nature versus human nature.Equine Vet Educ20(8), 401-405VetMedResource.
  • Meyrt T S, Fedde M R, Cox J H & Erickson H H (2000)Hyperkalaemic periodic paralysis in horses: a review.Equine Vet J31(5), 362-367PubMed.
  • Naylor J M (1997)Hyperkalemic periodic paralysis.Vet Clin North Am Equine Pract13, 129-144PubMed.
  • Church S (1995)Hyperkalemic periodic paralysis in Australian Quarterhorses.Aust Vet J72(8), 314-316PubMed.
  • Naylor J M (1994)Equine hyperkalemic periodic paralysis - review and implications.Canadian Vet J35, 279-285PubMed.
  • Naylor J M, Robinson J A & Bertone J (1992)Familial incidence of hyperkalemic periodic paralysis in Quarterhorses.JAVMA3, 340-343PubMed.
  • Cox J H & DeBowes R M (1990)Episodic weakness caused by hyperkalemic periodic paralysis in horses.Comp Cont Educ Pract Vet (Equine)12(1), 83-89VetMedResource.
  • Spier S J, Carlson G P, Holliday T Aet al(1990)Hyperkalemic periodic paralysis in horses.JAVMA197, 1009-1017PubMed.

Other sources of information

  • American Quarterhorse Association (1996)Hyperkalemic periodic paralysis - A comprehensive brochure to inform and educate American Quarterhorse enthusiasts.AQHA, PO Box 200, Amarillo, Texas 79168, USA. Tel: +1 (806) 376 4811; Website:www.aqha.com.

Organisation(s)

  • American Quarterhorse Association, PO Box 200, Amarillo, Texas 79168, USA. Tel: +1 (806) 376 4811; Website:  www.aqha.com .
  • Gene probe testing:
    • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616-8744, USA.


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