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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Gastroesophageal reflux (GER)

A condition in which the muscle at the end of the esophagus does not close properly, allowing the contents of the stomach to leak back, or reflux, into the esophagus. This causes irritation such as a burning sensation in the chest or throat (heartburn) or the taste of stomach fluid in the back of the mouth (acid indigestion). Also known as acid reflux.

Germline Mutation

A mutation in one or more but not all of the cells that the body will use to produce egg and sperm cells. Usually this mutation is not present in other cells of the individual and cannot be detected with a blood test.

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