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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.

Advocate

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.

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

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.

Arrhythmia

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

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

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

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.

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.

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.

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.

Breath Stacking Technique

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.

Cardiomyopathy

Cardiomyopathy is a group of chronic disorders affecting the muscle of the heart resulting in impairment of the pumping function of the heart.

CGH Array

A method of examining regions of DNA to identify extra or missing pieces of chromosomal material ranging in size from a whole chromosome to a tiny piece. Targeted CGH arrays can be used to test for deletions and duplications within the CMD gene.

Cognition

Cognition is the process of knowing and, more precisely, the process of being aware, knowing, thinking, learning and judging. Some types of CMD do not affect cognition, other types of CMD may impair cognitive abilities.

Composite Motor Skills

A way of measuring several different types of motor skills, such as handwriting and eating, and putting these measurements together to see how various aspects of a person’s motor skills are doing overall.

Congenital

Present at birth.

Continuous Positive Airway Pressure (CPAP)

One of the most commonly used forms of noninvasive ventilation, CPAP increases the pressure of the air in the lungs for the whole time someone is using the machine. This is helpful for people who have weak airways that get too small at times (as with obstructive sleep apnea).

Contracture

A tightness in the muscles or tendons around a joint, which prevents the joint from moving the full amount. For example, a contracture in the knee can prevent the knee from straightening out or bending completely.

Deletion Mutation

DNA is the genetic language and is read from left to right in 3 letter words. Let us say a normal piece of DNA says “THE MAN HAS CAT AND HAT” . DNA language does not have spaces so in DNA language, above would read: THEMANHASCATANDHAT. In a deletion mutation, one or more letters are removed. For example, if the E in THE was deleted, you would have THMANHASCATANDHAT. When the copying machinery would read it out by 3, it would no longer make sense THM ANH ASC ATA NDH AT.

Deletion/Duplication Analysis

Molecular genetic testing to identify larger size deletions or duplications (typically between 40 basepairs and 40 Kilobases) of DNA within a gene. These methods typically do not detect smaller deletions or duplications of a few base pairs (which can be identified by other methods). Methods used include: array CGH; Multiplex Ligation-dependent Probe Amplification (MLPA); quantitative, real-time, or deletion-specific PCR; or Southern blot

Diagnosis

The specific name of a medical disorder.

DNA

The genetic language. It is contained within the cell’s nucleus in the form of chromosomes. The DNA alphabet is made up of 4 different nucleotides, adenine, guanine, thymine and cytosine, abbreviated AGTC. The genetic language is “read” in triplets so AGT, CTA (much like you read off your credit card number in sets of four, DNA is sets of three). These codons or sets of three are first transcribed into RNA and then encode a particular amino acid that when put next to another amino acid forms a particular protein. Some sets of three represent stop signs or pauses in the reading frame. Sometimes a mutation (or change) in one letter of the DNA alphabet creates a stop sign where an amino acid should be coded. This is one example of a mutation called a nonsense mutation.

Dominant Negative

This describes the mechanism by which a dominant mutation can cause disease. A mutation whose gene product adversely affects the normal (wild type) gene product within the same cell. The mutated copy may associate with the normal copy and cause dysfunction of both. In some cases, such as collagen (Ullrich CMD), one dominant negative mutation may be more harmful than having one mutation causing the production of no gene product (null mutation or null alleles), which only cause disease when present in both gene copies so that absolutely no product can be made.

Dysmotility

When digested food does not move through the stomach or intestines at the right speed. Digested food moves through our body when the muscles in our intestines move like a wave to push the food along. Sometimes the wave moves too slowly and can cause constipation. Other times it moves too quickly and can cause diarrhea.

Exon/Intron

An exon is the part of the gene that codes for the actual protein. On the chromosome the exons that make up the coding sequence for the protein are separated by introns. Upon reading of the gene, the cell cuts out the introns and puts the exons together (a process called splicing) so that the exons are now continuous with all the information necessary to make a protein. Mutations usually affect the information in exons or the way they are spliced together.

Frameshift Mutation

DNA is the genetic language and is read from left to right in 3 letter words. Let us say a normal piece of DNA says “THE MAN HAS CAT AND HAT” . DNA language does not have spaces so in DNA language, above would read: THEMANHASCATANDHAT. A frameshift mutation occurs when you either have a deletion, (one or more letters are removed) or an insertion (one or more letters are inserted). In the case of a deletion, if the E in THE was deleted, you would have THMANHASCATANDHAT. When the copying machinery would read it out by 3, it would no longer make sense THM ANH ASC ATA NDH AT. Similarly with an insertion, if two letters BX and were inserted after MAN, reading the genetic language in DNA would not make sense: THE MAN BXH ASC ATA NDH AT.

Gastroesophageal reflux (GER)

A condition in which the muscle at the end of the esophagus does not close properly, allowing the contents of the stomach to leak back, or reflux, into the esophagus. This causes irritation such as a burning sensation in the chest or throat (heartburn) or the taste of stomach fluid in the back of the mouth (acid indigestion). Also known as acid reflux.

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