Glossary of Terms
Click on a word/phrase below to see its definition.
Basal lamina
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.
Basement membrane
See Basal lamina
Benign
Referring to a genetic change that does not cause disease. Most genetic mutations we carry are benign.
Beta-blockers
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.
Bethlem Myopathy
A CMD Subtype that results from gene defects affecting the production of collagen type 6 protein in the extracellular matrix of the muscle.
Biopsy
An examination of tissue removed from a living body to discover the presence, cause, or extent of a disease
BiPAP
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.
Bisphosphonate
A class of drugs that prevent the loss of bone mass, used to treat osteopenia and osteoporosis
Blood Gases
A test to measure the concentrations of oxygen (O2) and carbon dioxide (CO2) in the blood, along with blood pH and bicarbonate level.
Bolus Feed
A dose of nutritional or medication preparation given via feeding tube
Breath Stacking
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.
CALLISTO
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
Capnography
The measure of CO2 levels in the airway.
Cardiac Monitor
A device for the continuous observation of cardiac function
Cardiomyopathy
Cardiomyopathy is a group of chronic disorders affecting the muscle of the heart resulting in impairment of the pumping function of the heart.