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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperkalemic periodic paralysis
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Accession:DOID:14451 term browser browse the term
Definition: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)
Synonyms:exact_synonym: Adynamia Episodica Hereditaria;   Adynamia Episodica Hereditaria with or without Myotonia;   Familial Hyperkalemic Periodic Paralysis;   Gamstorp Disease;   Gamstorp Episodic Adynamy;   HYPERKALEMIC PERIODIC PARALYSIS TYPE 1;   HYPP;   HyperKPP;   HyperPP;   Hyperkalemic Periodic Paralysis Type 2;   Hyperkaliemic Periodic Paralysis Type 2;   Myotonic Periodic Paralysis;   Primary Hyperkalemic Periodic Paralysis;   Sodium Channel Muscle Disease
 narrow_synonym: GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE;   PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
 primary_id: MESH:D020513
 alt_id: OMIM:170500;   RDO:0000513
 xref: GARD:195;   ICD10CM:G72.3;   NCI:C123429;   ORDO:682
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  disease 0
    disease of anatomical entity 0
      musculoskeletal system disease 0
        muscular disease 0
          familial periodic paralysis 0
            hyperkalemic periodic paralysis 0
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  disease 0
    disease of anatomical entity 0
      nervous system disease 0
        peripheral nervous system disease 0
          neuropathy 0
            neuromuscular disease 0
              muscular disease 0
                familial periodic paralysis 0
                  hyperkalemic periodic paralysis 0
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