Glossary of Terms

The basal lamina (lamina - layers), also known as the basement membrane, is a specialised form of extracellular matrix. The basal lamina can be organised in three ways: 1. it can surround cells (for example muscle fibres have a layer of basal lamina around them, 2. it lies underneath sheets of epithelial cells, 3. it separates two sheets of cells, such as the endothelial cells of blood vessels and epithelial cells of another tissue. 

See Basal lamina

Referring to a genetic change that does not cause disease. Most genetic mutations we carry are benign.

A group of medications that cardiologists use to decrease the heart rate by slowing down the speed at which the heart beats. These medications also help open the blood vessels and lower the blood pressure. Some common beta-blockers used in the United States are atenolol, nadolol (Corgard), and propranolol (Inderal), but there are also many other options your child’s cardiologist may choose. Beta-blockers are also used for other conditions not related to the heart.

A CMD Subtype that results from gene defects affecting the production of collagen type 6 protein in the extracellular matrix of the muscle.

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.