All
| Term | Definition |
|---|---|
| CPAP |
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 |
| CTG |
the abbreviation for |
| Degenerative |
deteriorating, getting worse |
| Depolarizing neuromuscular blocking agents |
(example: suxamethonium) drugs causing skeletal muscle paralysis |
| Distal |
situated away from the trunk of the body, at the end of the limbs toward the feet and hands |
| DM1 |
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 |
| DM2 |
the abbreviation for the Latin name for myotonic dystrophy (dystrophia myotonica) type 2, with the mutation found on chromosome 3 |
| DMPK |
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 |
| Dysphagia |
difficulty swallowing |
| Dysphasia |
difficulty speaking |
| Dyspnea |
shortness of breath |
| Dystrophy |
an inherited muscle disorder in which the muscles become weaker |
| Ectopic |
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 |
| EDS |
acronym for excessive daytime sleepiness |
| EKG or ECG |
electrocardiogram, a test that prints out a graphic record of a person |
| Endocrine system |
the body system that secretes hormones that |
| Epidemiology |
the study of the distribution of health-related states (for a specific disease, like myotonic dystrophy) or events in specified populations |
| Esophagus |
the portion of the digestive canal between the pharynx and stomach |
| Foot drop |
partial or total inability to dorsiflex (turn upward) the foot |
| G-Tube |
implanted feeding tube to supply sustenance when person is unable to safely swallow on his own impotence |
| Gait |
manner of walking |
| Gastroenterologist |
a doctor focusing on the function and disorders of the stomach, intestines and assorted organs that are |
| Gene |
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 |
| Genetic |
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 |
| Genotypes |
the sum total of the genetic material transmitted from a person's parents |
