| ADPKD | autosomal dominant polycystic kidney disease |
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| ADVIRC | autosomal dominant vitreo-retinochoroidopathy |
| CPXD | chondrodysplasia punctata, X-linked dominant |
| DEBS | dominant epidermolysis bullosa simplex |
| DH | daily habits; day hospital; dehydrocholate; dehydrogenase; delayed hypersensitivity; dermatitis herp... |
| childhood muscular dystrophy | The most common childhood muscular dystrophy, with onset usually before age 6. Characterised by symmetrical weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). Synonym: childhood muscular dystrophy, Duchenne's disease, pseudohypertrophic muscular dystrophy. (05 Mar 2000) |
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| 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) |
| muscular dystrophy | A group of diseases characterised by progressive degeneration and/or loss of muscle fibres without nervous system involvement. All or nearly all of them have a hereditary origin but details of the type of genetic defect and of the prognosis for the disease vary from type to type. Duchenne muscular dystrophy (pseudohypertrophic muscular dystrophy) is the most common form. It is due to a sex-linked recessive allele and this is expressed as an absence of the protein dystrophin, the disease in boys shows extensive but insufficient muscle fibre reformation from satellite cells. (18 Nov 1997) |
| 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 muscular dystrophy | A form of progressive muscular atrophy in which the disease begins in the muscle and not in the spinal centres. Synonym: Erb atrophy, idiopathic muscular atrophy. (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) |
| scapulohumeral muscular dystrophy | One of the less well-defined types of muscular dystrophy, probably heterogenous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterised by weakness and wasting, usually symmetrical, of the pelvic girdle muscles, the shoulder girdle muscles, or both, but not the facial muscles. Muscle pseudohypertrophy, heart involvement, and mental retardation are absent. Variable inheritance. Synonym: Leyden-Mobius muscular dystrophy, pelvofemoral muscular dystrophy, scapulohumeral muscular dystrophy. (05 Mar 2000) |
| pseudohypertrophic muscular dystrophy | The most common childhood muscular dystrophy, with onset usually before age 6. Characterised by symmetrical weakness and wasting of first the pelvic and crural muscles and then the pectoral and proximal upper extremity muscles; pseudohypertrophy of some muscles, especially the calf; heart involvement; sometimes mild mental retardation; progressive course and early death, usually in adolescence. X-linked inheritance (affects males and transmitted by females). Synonym: childhood muscular dystrophy, Duchenne's disease, pseudohypertrophic muscular dystrophy. (05 Mar 2000) |