Glossary of Terms

A pharmaceutical formulation of the naturally occurring peptide, Angiotensin (1-7), being tested for use as a treatment in several rare disorders

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.

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.

Antisense oligonucleotides (AO) or antisense RNA can complementarily bind to a target site in pre-mRNA and regulate gene splicing, either to restore gene function by reprogramming gene splicing or to inhibit gene expression by disrupting splicing. 

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

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

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

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.

Antisense oligonucleotides (AO) or antisense RNA can complementarily bind to a target site in pre-mRNA and regulate gene splicing, either to restore gene function by reprogramming gene splicing or to inhibit gene expression by disrupting splicing.

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).

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.

Small skinny muscles due to wasting.

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.

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.

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