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Failure to elevate lactate upon ischemic exercise test

MedGen UID:
1052381
Concept ID:
CN377357
Finding
HPO: HP:6000526

Definition

Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFailure to elevate lactate upon ischemic exercise test

Conditions with this feature

Glycogen storage disease, type V
MedGen UID:
5341
Concept ID:
C0017924
Disease or Syndrome
Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms are usually precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second-wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary; however, diagnosis is typically delayed as myalgia and fatigability are dismissed/overlooked. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that can – on occasion – eventually result in acute renal failure.

Recent clinical studies

Diagnosis

Scott AC, Wensel R, Davos CH, Kemp M, Kaczmarek A, Hooper J, Coats AJ, Piepoli MF
Circulation 2002 Jul 9;106(2):214-20. doi: 10.1161/01.cir.0000021603.36744.5e. PMID: 12105161
Skard Heier M, Dietrichson P, Landaas S
Acta Neurol Scand 1986 Dec;74(6):479-85. doi: 10.1111/j.1600-0404.1986.tb07874.x. PMID: 3825503

Prognosis

Scott AC, Wensel R, Davos CH, Kemp M, Kaczmarek A, Hooper J, Coats AJ, Piepoli MF
Circulation 2002 Jul 9;106(2):214-20. doi: 10.1161/01.cir.0000021603.36744.5e. PMID: 12105161

Clinical prediction guides

Scott AC, Wensel R, Davos CH, Kemp M, Kaczmarek A, Hooper J, Coats AJ, Piepoli MF
Circulation 2002 Jul 9;106(2):214-20. doi: 10.1161/01.cir.0000021603.36744.5e. PMID: 12105161

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