All
| 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 |
