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Term Definition

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

Ankle Foot Orthosis (AFO)

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

Aspiration pneumonia

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

Atrial fibrillation

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

Attention Deficit Hyperactivity Disorder (ADHD)

a behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity and hyperactivity

Autosomal dominant

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

Barium swallow test

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

Bulbar weakness

presence of weakness in the tongue, lips, palate, pharynx and larynx

Cardiac conduction

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


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

Chorionic villus sampling (CVS)

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

Club foot

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


abbreviaton for central nervous system; brain

Cognitive problems

difficulties with thinking, learning and memory

Conduction defects

problems with the electrical impulses that regulate the heart beat


present at birth


permanent tightening of muscles causing abnormal joint rigidity

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