Type V Glycogen Storage Disease Clinical Presentation

Updated: Mar 07, 2018
  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
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  • Age at onset of symptoms depends on enzyme activity levels. Initial symptoms are cramps, fatigue, and pain after exercise. [8]

  • Because severity depends on enzyme activity, individual presentation is unique.

  • Some adults develop a progressive proximal weakness.

  • Some adults develop a fixed motor weakness.

  • The disorder has a unique "second-wind" phenomenon. [9] If a patient nearing fatigue slows exercise to a tolerable level, a point exists at which exercise may be increased again without previous symptoms [10] . According to Braakhekke and colleagues, this phenomenon may be secondary to increased recruitment of motor units, increased cardiac output, and use of free fatty acids for muscle metabolism. [11]

  • Burgundy-colored urine has been reported. It is thought to be a result of rhabdomyolysis after intense exercise.

  • Voduc and colleagues report an unusual presentation as unexplained dyspnea. [12]

  • The rate of rise in oxygen consumption per unit time (VO2) is relative to work rate increases.



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  • Diagnosis is suggested by patient history.

  • Clinical findings may be absent upon physical examination.

  • Muscle strength and reflexes may be normal.

  • In later adult life, persistent weakness and muscle wasting may be present.

  • When clinical suspicion is present, diagnostic testing includes the ischemic forearm test, laboratory analysis, and electromyography.

  • Pillarisetti and Ahmed report a case of GSD V presenting as acute renal failure. [13]



GSD type V is an autosomal recessive disease, with heterozygotes usually not manifesting clinical features of the disease.