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Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
Sensitivity

The frequency with which a test yields a positive result when the individual being tested is actually affected and/or has the gene mutation in question

Skin Biopsy

A procedure where a piece of skin is removed to diagnose an illness. It may also be called punch biopsy. A skin biopsy can be performed in an outpatient medical setting with some local anesthetic to numb the area. Physicians who specialize in genetics or dermatologists usually perform the skin biopsy

During a skin or punch biopsy, the doctor removes a small round piece of skin using a hollow instrument. Stitches are only required if a large sample is taken. To prepare for the test, tell your doctor about all the medications you are currently taking including over the counter medications. You will feel a stinging sensation when the anesthetic is injected. You may feel a little sore in that area for several days thereafter.

Sleep apnea

A condition in which pauses in breathing (an apnea episode) occur during sleep because the airway has become narrowed, blocked, or floppy.

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