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Term Definition

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

Creatine Kinase (CK) levels

an important enzyme in muscle contraction


the abbreviation for


deteriorating, getting worse

Depolarizing neuromuscular blocking agents

(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

Dominant inheritance

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

Double helix

two strands of DNA held together by hydrogen bonds; when enlarged it


difficulty swallowing


difficulty speaking


shortness of breath


an inherited muscle disorder in which the muscles become weaker


occurring 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

Endocrine system

the body system that secretes hormones that


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

Foot drop

partial or total inability to dorsiflex (turn upward) the foot


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


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

Genetic counseling

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

Genomic background

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

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