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Exercise-induced malignant hyperthermia

MedGen UID:
1814609
Concept ID:
C5700399
Disease or Syndrome
Synonym: Exertional heat stroke
SNOMED CT: Exercise-induced malignant hyperthermia (1237338002)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
 
Monarch Initiative: MONDO:0018752
Orphanet: ORPHA466650

Definition

A rare disease with characteristics of exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness and myoglobinuria), tachycardia and in severe cases multiorgan failure. [from SNOMEDCT_US]

Recent clinical studies

Diagnosis

Rand JS, O'Brien PJ
J Am Vet Med Assoc 1987 Apr 15;190(8):1013-4. PMID: 3570952

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