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Muscle phosphoglycerate mutase deficiency with tubular aggregates: Effect of dantrolene
Author(s) -
Vissing John,
Schmalbruch Henning,
Haller Ronald G.,
Clausen Torben
Publication year - 1999
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(199908)46:2<274::aid-ana22>3.0.co;2-g
Subject(s) - dantrolene , muscle cramp , phosphoglycerate mutase , calcium , contracture , muscle contracture , medicine , dantrolene sodium , endocrinology , asymptomatic , chemistry , anatomy , surgery , glycolysis , metabolism
A patient with muscle phosphoglycerate mutase deficiency (PGAMD) and exercise‐induced muscle cramps had tubular aggregates in muscle and increased muscle Ca 2+ –adenosine triphosphatase and calcium content. Two ischemic forearm exercise tests induced contractures in the patient. On dantrolene treatment, the patient became asymptomatic, and the ischemic test was performed without contracture. These findings suggest that cramps in muscle PGAMD are caused by a high calcium release from the sarcoplasmic reticulum relative to calcium reuptake capacity.