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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 13


Other Names for this Disease

  • Enolase 3 deficiency
  • Enolase-beta deficiency
  • Glycogen storage disease 13
  • GSD13
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Symptoms

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What are the signs and symptoms of glycogen storage disease type 13?

Glycogen storage disease type 13 causes muscle pain (myalgia).  Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily.[1]
Last updated: 6/24/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Glycogen storage disease type 13. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Adult onset -
Autosomal recessive inheritance -
Elevated serum creatine phosphokinase -
Exercise intolerance -
Increased muscle glycogen content -
Myalgia -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals of Neurology. 2001; 50:202-207. http://www.ncbi.nlm.nih.gov/pubmed/11506403. Accessed 6/20/2012.


Other Names for this Disease
  • Enolase 3 deficiency
  • Enolase-beta deficiency
  • Glycogen storage disease 13
  • GSD13
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.