Glossary

AFO

An ankle-foot orthotic. (AFO) is an externally applied orthopedic appliance which is designed to protect, support and prevent or correct deformity of the foot, ankle and lower leg complex. AFOs are commonly referred to as braces or splints and can be made from either plastics or metal and leather. Various hinge designs are also available for AFOs which allow articulation at the ankle joint.

AFOs are commonly used to provide support for foot drop or for ankle instability associated with several conditions some of which include muscular dystrophy, stroke, spina bifida, cerebral palsy, Lou Gehrig’s Disease(ALS), multiple sclerosis.

Animal model

A laboratory animal is useful for medical research because it has specific characteristics that resemble a human disease or disorder. Scientists can create animal models, usually laboratory mice, by transferring new genes into them (knock in) or taking genes out (knock out).

Apoptosis

A form of cell death in which a programmed sequence of events leads to the elimination of cells without releasing harmful substances into the surrounding area. Apoptosis plays a crucial role in developing and maintaining health by eliminating old cells, unnecessary cells, and unhealthy cells. The human body replaces perhaps a million cells a second. Too little or too much apoptosis plays a role in a great many diseases. When programmed cell death does not work right, cells that should be eliminated may hang around and become immortal.

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.

BiPAP

Bi-level Positive Airway Pressure (Bi-Pap) is form of noninvasive ventilation respiratory support providing oxygen and pressure to the lungs to make it easier for a patient to breathe.  With BiPAP therapy, there are two different pressure settings for the patient. The bipap machine is able to detect how much pressure a patient needs and supply the adequate amount of air pressure on inhalation and exhalation. The dual settings of the BiPAP machine, allows patients to get more air into, and out of the lungs without the normal muscular activity needed to do so.

Cell

The cell is the basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane.  Each cell in the human body — there are 100 trillion cells in each of us — contains the entire human genome, all the genetic information necessary to build a human being. This information is encoded within the cell nucleus in 6 billion base pairs, subunits of DNA, packaged in 23 pairs of chromosomes, one chromosome in each pair coming from each parent. Each of the 46 human chromosomes contains the DNA for thousands of individual genes, the units of heredity.

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.

Congenital

Present at birth.

Contracture

A contracture is a condition of abnormal shortening or shrinkage of a muscle, tendon, etc., often with persistent flexion or distortion at a joint.  People affected with neuromuscular disease often develop contractures over time.  A physical or occupational therapist will probably be able to teach stretches that, when done regularly, can help decrease contractures.

Cough Assist Machine

The Cough Assist Machine helps to clear secretions from the lungs by helping you with your
breathing. When you breathe in (inspiration), the machine gives you air (positive pressure) to
help expand your lungs. When you blow out (expiration), the machine creates a sucking force
(negative pressure) that pulls the air out of your lungs. This rapid change in pressure during the
two phases of breathing (inspiration and exhalation) helps make your cough stronger and
more effective.

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.

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.

Enzyme

A type of protein which helps a cellular reaction happen more quickly.

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.

Fine Motor

Fine motor refers to functions which require tiny muscle movements.  For example, writing or typing would require fine motor movement.

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.

Gait trainer

A gait trainer is a type of walker, which provides considerable postural support for patients who require moderate to maximum support for ambulation. Gait trainers come in a variety of sizes to meet the needs of small children up through adults.  A gait trainer may be considered medically necessary for children and adults who require moderate to maximum support for walking and when the patient is unable to ambulate independently due to a chronic neuromuscular condition.

Gene

A discrete amount of information encoded on a portion of DNA. The genetic information is encoded in its own language. The genetic information on genes is first transcribed from DNA to RNA. The RNA is then used to make cellular proteins.
There are multiple genes on each chromosome. Each human has 23 pairs of chromosomes. If the analogy is building a tower with legos, each lego (of different lengths) is a gene, when you stack the legos on top of each other, you are linking the genes and the stack of legos equals a chromosome. Each chromosome has a matching chromosome and forms a pair.

Gross Motor

Gross motor refers to functions which require large muscle movements.  For example, walking or jumping would require gross motor movement.

Hypotonic

Hypotonic or hypotonia means having less than normal tone or tension.  Children with CMD are often hypotonic at, or shortly after, birth.

Hypoventilation

The state in which a reduced amount of air enters the alveoli in the lungs, resulting in decreased levels of oxygen and increased levels of carbon dioxide in the blood. Hypoventilation can be due to breathing that is too shallow (hypopnea) or too slow (bradypnea) or to diminished lung function.

IEP (Individualized Education Program)

In the United States an Individualized Education Program, commonly referred to as an IEP, is mandated by the Individuals with Disabilities Education Act (IDEA). In Canada and the United Kingdom, an equivalent document is called an Individual Education Plan.
In the US, the IDEA requires public schools to develop an IEP for every student with a disability who is found to meet the federal and state requirements for special education.  The IEP must be designed to provide the child with a Free Appropriate Public Education.  The IEP refers both to the educational program to be provided to a child with a disability and to the written document that describes that educational program.  IEPs are written for children aged 3 and older.

IFSP

The Individualized Family Service Plan (IFSP) is both a process and a document intended to assist families and professionals in a community in their combined efforts to meet the developmental needs of a young child from birth to age three with special needs

Insertion 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 an insertion, one or more letters are inserted. 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.

Institutional Review Board (IRB)

IRB. A group of scientists, doctors, clergy, and consumers at each health care facility that participates in a clinical trial. IRBs are designed to protect study participants. They review and must approve the action plan for every clinical trial. They check to see that the trial is well designed, does not involve undue risks, and includes safeguards for patients

Introns/exons

Genes have both noncoding (introns) and coding (exons) regions. The noncoding regions contain genetic information that gets cut out when the genetic information goes from DNA to RNA and is not integral to protein manufacture. Point mutations in the introns usually have no effect, unless they cause a shift in the reading frame through an insertion or deletion. Exons contain the actual genetic information that will be used to manufacture proteins. Point mutations, insertions, duplications and deletions all are types of mutations that change the genetic code and can lead to disease

MDA (Muscular Dystrophy Association)

The MDA is a  national voluntary health agency working to defeat neuromuscular diseases through worldwide research, comprehensive services, and public health education.  The MDA is dedicated to conquering more than 40 neuromuscular diseases.

Missense mutation

A missense mutation is a  genetic change involving the substitution of one base in the DNA for another which results in the substitution of one amino acid in a polypeptide for another. A missense mutation is a “readable” genetic message although its “sense” (its meaning) is changed. This is in contrast to a nonsense mutation which has no meaning except to halt the reading of the genetic message.

Mouse model

A laboratory mouse is useful for medical research because it has specific characteristics that resemble a human disease or disorder. Strains of mice having natural mutations similar to human ones may serve as models of such conditions. Scientists can also create mouse models by transferring new genes into mice or by inactivating certain existing genes in them.

Muscle biopsy

A muscle biopsy is a minor surgical procedure done under general or local anesthetic, using a needle or a small incision to remove a small sample of muscle. The procedure may be done to confirm a clinical diagnosis, distinguish between nerve and muscle disorders, identify a metabolic defect of muscle, diagnose diseases of connective tissue and blood vessels, detect muscle inflammation, or rule out muscle disease. Afterwards, there may be minor discomfort and bruising at the biopsy site which usually takes a week to heal fully.

Muscular Dystrophy Coordinating Committee (MDCC)

Plan devised in August 2005, by recognized experts in all the muscular dystrophies. The Action Plan serves as a roadmap to identify and prioritize high yield research objectives for the scientific community and all organizations targeting the muscular dystrophies. The Action Plan specifically addresses the following areas: disease mechanisms, diagnosis and screening, therapy, living with muscular dystrophy and research infrastructure. Cure CMD mission and goals are closely aligned with the MDCC Action Plan and seek to build the infrastructure to support these goals. These goals are:

  • identification of therapeutic targets
  • support for basic science research
  • support to translate basic science research into therapeutic targets
  • support to test therapeutic targets in animal models graduating to clinical trial format where applicable
  • support for registry development and establishment of biorespository and longitudinal data base.

Mutation

A change in the genetic code, either brought about spontaneously, though chemicals or radiation or inherited. Point mutations refer to changes in a single nucleotide, such as the insertion of an adenine for a guanine. Point mutations can either be silent (meaning they do not cause a change in the triplet/codon resulting in no net change in amino acid insertion), nonsense (a nucleotide change that results in a stop codon, thus a shortened or truncated often nonfunctional protein) and a missense mutation (a nucleotide change that results in a substitution for a different amino acid, leading to a structurally misshapen but possibly still somewhat functional protein). Other mutations result from insertions or deletions during replication or transcription.

Neurologist

A physician trained to specialize in diseases affecting the nervous system.  These diseases include the muscular dystrophies, Lou Gehrigs (ALS), Parkinsons, dementia, stroke and neuropathies.  For the first time, this year, the American Academy of Psychiatrists and Neurologists is offering special board certification in the muscle diseases.  This is a voluntary certification and would probably indicate a special interest on the part of that physician to pursue further certification.  Because the CMD’s are rare diseases, it is possible that your local neurologist will not have seen a child or adult with CMD before.  Especially in the early stages of diagnosis, it is important to find a knowledgeable neurologist to guide testing and diagnosis.  Contacting the MDA, can be a resource to find a neurologist with expertise in CMD.

NIH

National Institutes of Health is a part of the U.S. Department of Health and Human Services, and is the primary Federal agency for conducting and supporting medical research.  NIH is composed of 27 Institutes and Centers, the NIH provides leadership and financial support to researchers in every state and throughout the world. There are 4 institutes that primarily follow quality of medical care and research funding for muscular dystrophies: NINDs, NIAMs, NICHD and NHLBI. Together with the department of defense, CDC, and advocacy groups, these institutes sit on MDCC and direct and implement goals and strategies to improve funding and patient care.

Noninvasive ventilation

Noninvasive ventilation is the delivery of ventilatory support without the need for an invasive artificial airway. Such ventilation has a role in the management of acute or chronic respiratory failure in many patients and may have a role for some patients with heart failure. Noninvasive ventilation can often eliminate the need for intubation or tracheostomy and preserve normal swallowing, speech, and cough mechanisms. There are several types of noninvasive ventilation; including negative pressure ventilation, bilevel positive airway pressure (BIPAP or bilevel ventilator) device, or a continuous positive airway pressure (CPAP) device. The use of noninvasive positive-pressure ventilation (NPPV) in acute hospital settings and at home has been steadily increasing.

Nonsense mutation (premature stop codon)

Nonsense mutation: a nonsense mutation refers to a point mutation that changes a genetic sequence into a 3 letter code for a stop sign. If a stop sign arises in the middle of a gene because of a mutation, then when the gene encodes first mRNA and then a protein, a truncated or shortened protein will be made. Most of these shortened proteins are not functional and are destroyed by the cell.

NORD (National Organization for Rare Disorders)

A federation of voluntary health organizations dedicated to helping people with rare “orphan” diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.  NORD is not a government agency. It is a non-profit, voluntary health agency that exists to serve rare-disease patients and their families

Occupational Therapy

A special education related service which is usually focused upon the development of a student’s fine motor skills and/or the identification of adapted ways of accomplishing activities of daily living when a student’s disabilities preclude doing those tasks in typical ways.

Oligonucleotides

Short sequences of DNA that can bind to specific areas on the DNA where a mutation is located and can lead to exon skipping (or skipping over a coding sequence of DNA that contains a mutation) or repair of a frame shift mutation.

Orthopedic doctor

A doctor trained to specialize in bony injury.  Individuals with CMD will see an orthopedic doctor to check for scoliosis and contractures.  An orthopedic surgeon may perform a surgery to release a contracture or fix scoliosis.  An orthopedic doctor may also write the prescription for occupational and physical therapy.

Physiatrist

Physiatrists are rehabilitation physicians.  They are nerve, muscle, and bone experts who treat injuries or illnesses that affect how you move. Rehabilitation physicians have completed training in the medical specialty physical medicine and rehabilitation (PM&R).

Physical Therapy

A type of treatment or therapy designed to help an individual who has difficulty with physical movement.  Physical therapists may use exercise, water, and other treatments to help improve muscle strength, range of motion, and motor skills.

Protein

Most of us are familiar with the word protein, in the context of a food group we consume (protein versus carbohydrate versus fat). Proteins are found throughout the body, both inside cells, on cell membranes, and outside cells. Proteins have different purposes. Some proteins are structural, such as dystrophin. Others make reactions inside cells happen by helping two reagents get together. These types of proteins are called enzymes. An enzyme, much like a chaperone at a dance, helps supervise the matching of two people.

Pulmonologist

A physician trained to specialize in lung diseases.  These diseases include breathing problems in muscle disease, asthma and emphysema.  A pulmonologist may not be familiar with how best to diagnose and treat an individual with CMD is having breathing problems.

Respite Care

A service provided to the families of children who require extraordinary forms of care, so that the family can take vacations, handle business affairs, and have some relief from the duties of caring for the child.

RNA

Short for ribonucleic acid, a nucleic acid molecule similar to DNA but containing ribose rather than deoxyribose. RNA is formed upon a DNA template. There are several classes of RNA molecules.
They play crucial roles in protein synthesis and other cell activities:
Messenger RNA (mRNA) is a type of RNA that reflects the exact nucleoside sequence of the genetically active DNA. mRNA carries the “message” of the DNA to the cytoplasm of cells where protein is made in amino acid sequences specified by the mRNA.
Transfer RNA (tRNA) is a short-chain type of RNA present in cells. There are 20 varieties of tRNA. Each variety combines with a specific amino acid and carries it along (transfers it), leading to the formation of protein with a specific amino acid arrangement dictated by DNA.
Ribosomal RNA (rRNA) is a component of ribosomes. Ribosomal RNA functions as a nonspecific site for making polypeptides

Stander

A piece of equipment which allows a person who is unable to stand on his/her own (or has great difficulty standing) to stand upright.  Standers have a variety of components providing support to necessary areas (knees, chest, hips, head, etc.) depending on each person’s needs.  Standing is medically beneficial for many reasons, including:  bone density, stretching feet/ankles, improving digestion and improving joints.

Skin biopsy

A skin biopsy is a procedure where a piece of skin is removed to diagnose an illness. It may also be called punch biopsy. A skin biopsy can be performed in an outpatient medical setting with some local anesthetic to numb the area. Physicians who specialize in genetics or dermatologists usually perform the skin biopsy.

During a skin or punch biopsy, the doctor removes a small round piece of skin using a hollow instrument. Stitches are only required if a large sample is taken. To prepare for the test, tell your doctor about all the medications you are currently taking including over the counter medications. You will feel a stinging sensation when the anesthetic is injected. You may feel a little sore in that area for several days thereafter.

Stem cell

One of the human body’s master cells, with the ability to grow into any one of the body’s more than 200 cell types.

All stem cells are unspecialized (undifferentiated) cells that are characteristically of the same family type (lineage). They retain the ability to divide throughout life and give rise to cells that can become highly specialized and take the place of cells that die or are lost.
Stem cells contribute to the body’s ability to renew and repair its tissues. Unlike mature cells, which are permanently committed to their fate, stem cells can both renew themselves as well as create new cells of whatever tissue they belong to (and other tissues).

Treat NMD

TREAT-NMD is a network that brings together people with neuromuscular diseases and specialists (scientists, healthcare professionals and pharmaceutical companies) working on treatments for these conditions.


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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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