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Term Definition
Amniocentesis

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.

Anticholinesterases

(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

Anticipation

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.

Apnea

periodic absence of breathing while sleeping

Armodafinil

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

Arrhythmia

an irregular heart beat

Aspiration pneumonia

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

Asymptomatic

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

Blepheroplasty

any operation for the correction of a defect in the eyelids

Bradyarrhythmia

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

Cardiomyopathy

damage to the heart muscle that decreases its ability to pump blood effectively

Cardiotoxicity

substance that is harmful to the heart

Cataracts

a film that can form in the eye and cause complete or partial opacity of the ocular lens, or blurry vision

CCTG

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

Chromosome

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

Cisapride

(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

CNS

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

Congenital

present at birth

Contractures

permanent tightening of muscles causing abnormal joint rigidity

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