PatientCrossroads CMD


Glossary of Terms Related to Congenital Muscle Disease

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Term Definition
ACE Inhibitors

A group of medications that cardiologists use to help relax blood vessels and make it easier for the heart to circulate blood around the body. One of the main side effects of ACE inhibitors is possible lowering of blood pressure. Some common ACE inhibitors used in the United States are enalapril (Vasotec), lisinopril (Zestril), and perindopril (Aceon), but there are also many other options your child’s cardiologist may choose. ACE inhibitors are also used to treat other conditions not related to the heart.


To work with your child’s health care providers as a team member to do the best thing for your child. This sometimes may mean speaking up when you are uncomfortable with a situation or plan of care, seeking out a second opinion, or identifying an advocate within your child’s health care team.


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

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.


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


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.


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.

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

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.

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