Glosario médico

Supports that are provided to a child throughout the school day that do not significantly alter what is being taught or how the child participates in school activities. Examples include preferential seating, extended time on tests, daily communication logs to share information between school and home, use of spell check or a computer, enlarged print, and books on tape.

Normal day-to-day activities such as walking, going to the bathroom, eating, dressing, bathing, etc.

The ADA prohibits discrimination against people with disabilities in employment, transportation, public accommodation, communications, and governmental activities.

A method of prenatal diagnosis at 15 weeks in which a fluid sample is removed from the womb and grown in tissue culture; it takes another 2-3 weeks for results; a fetus can be tested for genetic diseases this way.

An apparatus used to support, align, prevent, or correct deformities or to improve the function of the ankle and foot.

(Example: Neostigmine) One of the drugs that myotonic dystrophy patients should avoid; can adversely affect diameter of blood vessels, function of the intestines, and part of the nervous system that controls smooth muscle, heart muscle and gland cells.

The tendency in certain genetic disorders-like myotonic dystrophy-for individuals in successive generations to present with symptoms at an earlier age and/or with more severe manifesations; often observed in disorders resulting from the expression of a trinucleotide repeat mutation that tends to increase in size and have a more significant effect when passed from one generation to the next.

Periodic absence of breathing while sleeping.

A drug used to treat excessive daytime sleepiness (brand name is Nuvigil).

An irregular heart beat.

Serious form of pneumonia resulting from inhalation of foreign material, usually food particles or vomit, into the bronchi.

Without symptoms, at least in the mind of the person himself.

Abnormal heartbeat in which the normal rhythmical contractions of the upper chambers of the heart (cardiac atria) are replaced by rapid irregular twitchings of the muscular wall.

A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolesence, although a minority experiences the full complement of symptoms into mid-adulthood.

A pattern of inheritance in which if one parent has a mutated gene, each offspring has a 50% chance of inheriting it.

A test in which a patient swallows a thick white substance and the swallowing process is filmed to detect possible abnormalities.

Any operation for the correction of a defect in the eyelids.

Any disturbance of the heart’s rhythm resulting in a rate of under 60 beats per minute.

Presence of weakness in the tongue, lips, palate, pharynx and larynx.

The electrical impulses that cause the heart to beat.

Damage to the heart muscle that decreases its ability to pump blood effectively.

Substance that is harmful to the heart.

A film that can form in the eye and cause complete or partial opacity of the ocular lens, or blurry vision; in myotonic dystrophy patients, often posterior subcapsular iridescent cataracts form; they are sometimes referred to as Christmas-tree cataracts.

The abbreviation for “cytosine, cytosine, thymidine, guanine”, the chemicals in the DNA that cause myotonic dystrophy type-2 (on chromosome 3) when they are created in repeats greater than the normal number.

A method of prenatal diagnosis at around 10 weeks into the pregnancy; a biopsy in which a piece of membrane around the embryo is removed using a needle through the abdomen or vagina; results in 1-2 weeks.

One of the bodies (normally 23 pairs) located in the nucleus of a cell that hosts the genes.

(Example: propulsid) A prokinetic drug that should be avoided by individuals with myotonic dystrophy.

An inversion of the foot in which only the outer side of the sole touches the ground; also called talipes equinovarus.

Abbreviation for central nervous system; brain.

Difficulties with thinking, learning and memory.

Particular form of longitudinal study that samples a cohort, meaning a group of people who share a defining characteristic, typically those who experienced a common event in a selected period.

Problems with the electrical impulses that regulate the heart beat.

Present at birth.

Permanent tightening of muscles causing abnormal joint rigidity.

A fixed amount ($20 for example) you pay for a covered healthcare service after you’ve paid your deductible.

Acronym for continuous positive airway pressure; a device that delivers air to the nose for easier breathing; often used at night for those with sleep apnea.

An important enzyme in muscle contraction.

The abbreviation for “cytosine, thymidine, guanine”, the 3 chemicals in the DNA that cause myotonic dystrophy type-1 (on chromosome 19) when they sputter beyond the normal 5-37 repeats found along the rung-looking parts in the double helix that resembles a gracefully twisted ladder. CTG repeat causes DM1.

The amount you pay for covered healthcare services before your insurance plan starts to pay. With a $2,000 deductible for example, you pay the first $2,000 of covered services yourself. Once you exceed $2,000, your insurance company will pay for additional medical costs.

Deteriorating, getting worse.

(Example: suxamethonium) Drugs causing skeletal muscle paralysis.

Situated away from the trunk of the body, at the end of the limbs toward the feet and hands.

The abbreviation for the Latin name for myotonic dystrophy (dystrophia myotonica) type 1, the more severe form of myotonic dystrophy with the mutation found on chromosome 19.

The abbreviation for the Latin name for myotonic dystrophy (dystrophia myotonica) type 2, with the mutation found on chromosome 3.

The abbreviation for the myotonic dystrophy gene, the Myotonic Dystrophy Protein Kinase gene that causes DM1; it is located on chromosome 19.

As in myotonic dystrophy, the expression of a gene where if one parent carries the mutated gene, the children have a 50% chance of getting it.

Two strands of DNA held together by hydrogen bonds; when enlarged it resembles a tiny ladder (with many rungs) that has been gracefully twisted; it is along these rungs that the chemical repeats stutter beyond their normal number and cause the mutation, or change, in the gene that causes myotonic dystrophy.

Difficulty swallowing.

Difficulty speaking.

Shortness of breath.

An inherited muscle disorder in which the muscles become weaker.

Occuring in the wrong place in the body, such as the development of an impregnated egg outside the cavity of the uterus; or, a cardiac beat originating elsewhere other than at the sinoatrial node.

Acronym for excessive daytime sleepiness.

Electrocardiogram, a test that prints out a graphic record of a person’s heart beat.

The body system that secretes hormones that allow the body perform many of its functions.

The study of the distribution of health-related states (for a specific disease, like myotonic dystrophy) or events in specified populations.

The portion of the digestive canal between the pharynx and stomach.

On FAQ’s page, referring to enlargement of the myotonic dystrophy genetic mutation, or abnormality, as it passes to offspring; also refers to the enlargement of mutations within a given organ or system over the life of an affected individual (see somatic mosaicism); happens often in myotonic dystrophy.

Partial or total inability to dorsiflex (turn upward) the foot.

A list of prescription drugs covered by a prescription drug plan or another insurance plan offering prescription drug benefits. Also called a drug list.

Implanted feeding tube to supply sustenance when person is unable to safely swallow on his own impotence.

Manner of walking.

A doctor focusing on the function and disorders of the stomach, intestines and assorted organs that are often referred to as the GI tract.

A functional unit of heredity (like eye and hair color, height, among many other characteristics including inherited diseases) that occupies a specific place on a chromosome; it is capable of reproducing itself at each cell division and directs the formation of an enzyme or protein.

Of or pertaining to genes; inherited.

A meeting with a medical professional, often a geneticist, to learn how a possible inherited disease can affect you, and how you can choose to avoid passing it to your offspring if you so choose.

Referring to the complete set of genes inherited from one’s parents.

The sum total of the genetic material transmitted from a person’s parents.

Bodily system referring to the stomach, intestines and related organs.

A medical condition in which the male reproductive organs (the testes) diminish in size and fail to function.

Molecular genetic testing to identify a set of closely linked segments of DNA.

A type of health insurance plan that usually limits coverage to care from doctors who work for or contract with the HMO. It generally won’t cover out-of-network care except in an emergency.

Inability of one eye to attain binocular vision with the other because of imbalance of the muscles of the eyeball–called also strabismus, squint.

Excessive amniotic fluid build-up during pregnancy.

A greater than normal concentration of potassium ions in the circulating blood.

Excessive growth of bony tissue.

Excessive daytime sleepiness.

General increase in bulk or a part of an organ.

A body temperature significantly below 98.6.

Low muscle tone causing floppiness, as in a child with the congenital form of myotonic dystrophy.

A cardiac device implanted in the chest; a combination pace-maker and defibrillator designed to regulate the heart beat, to keep it from beating too fast or too slow.

The inability to control one’s impulses.

Eggs are obtained from the female after drugs have been used to stimulate ovarian production. While under sedation and with the use of ultrasound guidance, a needle is inserted into the ovaries and eggs are aspirated. These eggs are then fertilized in the laboratory (in-vitro) with the partner’s sperm and the developing embryos are cultured from three to six days.

A breathing device to help exercise breathing muscles and help maximize lung capacity.

New disease diagnoses in a time period.

A written plan for each student in special education describing the student’s present levels of performance, annual goals including short-term objectives, specific special education and related services, dates for beginning and duration of services, and how the IEP will be evaluated.

Drugs used to «knock a patient out» prior to surgery and certain other procedures.

Diminished effectiveness of insulin in lowering blood sugar levels.

Muscles between the ribs.

The insertion of a tube into the lungs to provide pulmonary ventilation, or to assist with breathing.

Diagnosis later in life, typically after age 50.

A drug used to treat myotonia (delayed muscle relaxation after contraction) in muscle diseases such as myotonic dystrophy and myotonia congenital (brand name is Mexitil).

A drug used to treat excessive daytime sleepiness (brand name is Provigil).

The power of spontaneous movement.

A disease that can affect many different organs and systems in the body.

As used on this website, a change in the normal chemistry of a gene.

Muscle weakness.

The inability of contracted muscles to relax on command; or, a special kind of muscle stiffness.

Public health program of screening in infants shortly after birth for conditions that are not clinically evident in the newborn period.

Neonatal (new born) intensive care unit.