Glossary of Terms

Click on a word/phrase below to see its definition.

Anticoagulants

Anticoagulants

A group of medications that thin the blood to prevent it from forming clots (which cause blockages in the blood vessels). The heart does not have to work as hard to pump thinner blood, but when people are on this type of medication they can bleed easily. Some common anticoagulant medications used in the United States are warfarin (Coumadin), heparin, and aspirin, but there are also other options your child’s cardiologist may choose.

Anticonvulsant Therapy

Anticonvulsant Therapy

Medications that reduce the frequency and severity of seizures. Sometimes seizures can stop completely when a person is on an anticonvulsant. Some common anticonvulsants used in the United States are valproic acid (Depakote), levetiracetam (Keppra), zonisamide (Zonegran), and topiramate (Topamax), but there are also many other options your child’s neurologist may choose. Anticonvulsants are often used for other conditions not related to seizures or epilepsy.

Apoptosis

Apoptosis

A process causing cell death, specifically a "programmed cell death" in contrast with necrosis which is a "traumatic cell death".

Arrhythmia

Arrhythmia

A change in the rhythm of the heart’s beating.

Arterial Blood Gas

Arterial Blood Gas

A test that measures CO2 levels in the blood and is taken (typically) from the radial artery.

Arthrogryposis

Arthrogryposis

A condition that results in an infant being born with multiple contractures. This can be an early symptom of CMD but may be confused with other causes for contractures seen at birth.

Aspiration

Aspiration

When something (food, liquid, mucus, etc.) goes into the lungs instead of into the stomach or out the mouth or nose. When a substance is aspirated into the lungs, it can lead to a lung infection (like pneumonia).

Atelectasis

Atelectasis

Collapse of part (or all) of a lung. This can be caused by a blockage of the airways or by pressure on the airways from outside the lungs.

Atrophy

Atrophy

Small skinny muscles due to wasting.

Autosomal Dominant

Autosomal Dominant

Some forms of CMD, in particular Ullrich and lamin A/C related CMD, may be inherited in an autosomal dominant fashion. Autosomal dominant means you need only one mutation to have the disease. Autosomal dominant diseases usually have an affected parent, because the parent carries one mutated copy of the gene which then gets passed to the child who has the disease. More often in families with a child affected by CMD, the mutation will be a de novo mutation, meaning it has arisen spontaneously, and the parent does not have it, but the child does.

Autosomal Recessive

Autosomal Recessive

Most forms of CMD are inherited in an autosomal recessive fashion. This means both parents contribute a mutation in the same gene to their child. The child must have both mutations to have CMD. The parents are both carriers of CMD and are unaffected. The child may inherit a different mutation from each parent in the same gene (heterozygous). If the child inherits the same mutation from both parents, it is called homozygous.

AVAPS

AVAPS

Average Volumes Assured Pressure Support, a type of BiPAPA breathing support

Benign

Benign

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

Beta-blockers

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

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.