Glossary of Terms

An examination of tissue removed from a living body to discover the presence, cause, or extent of a disease

Bi-level Positive Airway Pressure (Bi-Pap) is one of the most commonly used forms of noninvasive ventilation respiratory support used to provide oxygen and pressure to the lungs to make it easier for a patient to breathe. Bi-PAP has two levels of airway pressure: a high pressure when the person breathes in and a low pressure when the person breathes out. A Bi-PAP machine can be programmed to cycle when the person breathes, or it can be set to a timed cycle.

A class of drugs that prevent the loss of bone mass, used to treat osteopenia and osteoporosis

A test to measure the concentrations of oxygen (O2) and carbon dioxide (CO2) in the blood, along with blood pH and bicarbonate level.

A dose of nutritional or medication preparation given via feeding tube

A type of respiratory therapy. The patient uses a special bag equipped with a one-way valve and mouthpiece to take a series of breaths without exhaling, expanding the lungs beyond what he or she can accomplish with a single breath. This stretches the lungs and opens clogged airways.

Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil, the clinical trial testing the drug Omigapil in Collagen VI and

LAMA2 CMD Subtypes

The measure of CO2 levels in the airway.

A device for the continuous observation of cardiac function

Cardiomyopathy is a group of chronic disorders affecting the muscle of the heart resulting in impairment of the pumping function of the heart.

The structural, funtional, and biological unit of all organisms.

Pertaining to the bones in upper spine and neck

A method of examining regions of DNA to identify extra or missing pieces of chromosomal material ranging in size from a whole chromosome to a tiny piece. Targeted CGH arrays can be used to test for deletions and duplications within the CMD gene.

Congenital Muscular Dystrophy

A unique muscle disorder under the umbrella term "CMD" - meaning congenital muscular dystrophy or congenital muscle disease.