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Concept information

Musculoskeletal Diseases > Muscular Diseases > Paralyses, Familial Periodic > Paralysis, Hyperkalemic Periodic
Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Paralyses, Familial Periodic > Paralysis, Hyperkalemic Periodic
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Paralyses, Familial Periodic > Paralysis, Hyperkalemic Periodic
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Paralyses, Familial Periodic > Paralysis, Hyperkalemic Periodic

Terme préférentiel

Paralysis, Hyperkalemic Periodic  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)

Concept générique

Concepts associés

Synonyme(s)

  • Adynamia Episodica Hereditaria
  • Adynamia Episodica Hereditaria with or without Myotonia
  • Familial Hyperkalemic Periodic Paralysis
  • Gamstorp Disease
  • Gamstorp Episodic Adynamy
  • Hyperkalemic Periodic Paralysis
  • Hyperkalemic Periodic Paralysis, Familial
  • HyperKPP
  • HyperPP
  • Myotonic Periodic Paralysis
  • Paralysis, Periodic, Hyperkalemic, Familial
  • Primary Hyperkalemic Periodic Paralysis
  • Sodium Channel Muscle Disease

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-HRL71MBQ-X

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RDF/XML TURTLE JSON-LD Date de création 03/11/1999, dernière modification le 08/07/2013