| EDMD | Emery-Dreifuss muscular dystrophy |
|---|---|
| EMD | electromechanical dissociation; emergency medical dispacher; emergency medical doctor; Emery-Dreifus... |
| FCMD | Fukuyama congenital muscular dystrophy |
| LGMD | limb-girdle muscular dystrophy |
| MDP | manic-depressive psychosis; maximum diastolic potential; maximum digital pulse; methylene diphosphat... |
| Meesman dystrophy | Epithelial dystrophy characterised by progressive cysts and opacities of the corneal epithelium, with onset in infancy. Inheritance: autosomal dominant with incomplete penetrance. Synonym: Meesman dystrophy. (22 Sep 2002) |
|---|---|
| vulvar dystrophy | A spectrum of vulvar eruptions consisting of white atrophic papules, including lichen sclerosus et atrophicus, squamous cell hyperplasia (hypertrophic dystrophy), or a combination of these (mixed dystrophy). See: lichen sclerosus et atrophicus. (05 Mar 2000) |
| reticular dystrophy of cornea | <ophthalmology> Bilateral, progressive, superficial degeneration of the corneal epithelium and adjacent Bowman's membrane. (05 Mar 2000) |
| Groenouw's corneal dystrophy | A granular type of corneal dystrophy, with autosomal dominant inheritance, a macular type of corneal dystrophy, with autosomal recessive inheritance. (05 Mar 2000) |
| ring-like corneal dystrophy | Thread-like opacities of the anterior corneal stroma, with acute, painful onset followed by decreased vision; autosomal dominant inheritance. (05 Mar 2000) |
| gutter dystrophy of cornea | A marginal furrow usually inferiorly about 1 mm from the limbus; and sometimes bilateral. Synonym: keratoleptynsis. (05 Mar 2000) |
| microcystic epithelial dystrophy | Bilateral, symmetrical intraepithelial cysts in the central area of the cornea of healthy women, without hereditary predisposition. (05 Mar 2000) |
| mucopolysaccharide keratin dystrophy | A histologic finding seen in the surface epithelium of oral inflammatory fibrous hyperplasia, consisting of homogeneous eosinophilic pools of material in the superficial spinous layer. (05 Mar 2000) |
| cone dystrophy | A retinal abnormality in which colour perception is severely deficient and typical changes occur in electroretinogram. See: achromatopsia. Synonym: cone degeneration. (05 Mar 2000) |
| corneal dystrophy | Central corneal opacification, usually bilateral, symmetrical, and often autosomal recessive, involving predominantly epithelial, stromal, or endothelial layers, often in a typical pattern. (05 Mar 2000) |
| myotonic dystrophy | <neurology> An inherited human neuromuscular disease classed as an autosomal dominant disease in which there is progressive muscle weakening and wasting. A triplet repeat syndromes (like fragile X syndrome), this most common adult form of muscular dystrophy is caused by expansion of the unstable trinucleotide repeat CTG in the 3' untranslated region on chromosome 19q13 (cAMP-dependent muscle protein kinase gene). Anticipation has been associated with further expansion of the repeat upon transmission to subsequent generations (the inheritance pattern is autosomal dominant), although contraction has been noted to occur as well. Especially severe neonatal cases have been born to affected mothers preferentially, suggesting a role for genomic imprinting as well. The classic physical signs include atrophy of facial muscles, cataracts, and delayed muscle relaxation. Detection of the expanded trinucleotide repeat is accomplished by PCR or Southern blot and expansion appears to correlate with decreased transcription of the protein kinase gene. Inheritance: autosomal dominant. (29 Dec 1997) |
| craniocarpotarsal dystrophy | Congenital association of skeletal defects (ulnar deviation of hands with camptodactyly, talipes equinovarus, and frontal bone defects) and characteristic facies (protrusion of lips as in whistling, sunken eyes with hypertelorism, and small nose); autosomal dominant inheritance. Synonym: craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome. (05 Mar 2000) |
| progressive tapetochoroidal dystrophy | An x chromosome-linked abnormality characterised by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness. (12 Dec 1998) |
| hypertrophic dystrophy | Increase in the number of cells in a squamous epithelium. Synonym: hypertrophic dystrophy. (05 Mar 2000) |
| neuroaxonal dystrophy | A rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterised initially by walking difficulties, weakness, and areflexia, later followed by corticospinal and pseudobulbar findings, blindness, loss of pain appreciation, and mental deterioration; pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nuclei; autosomal recessive inheritance. (05 Mar 2000) |