| CASMD | congenital atonic sclerotic muscular dystrophy |
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| CD | cadaver donor; canine distemper; canine dose; carbohydrate dehydratase; carbon dioxide; cardiac dise... |
| CDGG | corneal dystrophy Groenouw type, granular |
| COD-MD | cerebro-ocular dysplasia-muscular dystrophy [syndrome] |
| CXMD | canine X-linked muscular dystrophy |
| oedema, hereditary angioneurotic | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
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| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
| thoracic-pelvic-phalangeal dystrophy | Hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. Synonym: asphyxiating thoracic chondrodystrophy, Jeune's syndrome, thoracic-pelvic-phalangeal dystrophy. (05 Mar 2000) |
| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
| Emery-Dreifuss muscular dystrophy | A generally benign type of muscular dystrophy, with onset in childhood or early adulthood. Weakness begins with the pectoral girdle and proximal upper extremity muscles and spreads to the pelvic girdle and distal lower extremity muscles. Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common. An X-linked inherited disorder, nonallelic to Duchenne's muscular dystrophy. (05 Mar 2000) |
| endothelial dystrophy of cornea | Spontaneous loss of corneal endothelium leading to oedema of the corneal stroma and epithelium. (05 Mar 2000) |
| epithelial dystrophy | Corneal dystrophy affecting primarily the epithelium and its basement membrane. See: juvenile epithelial corneal dystrophy. (05 Mar 2000) |
| twenty-nail dystrophy | Longitudinal ridging of all of the nails; seen in alopecia areata and lichen planus. (05 Mar 2000) |
| juvenile epithelial corneal 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) |
| exostoses, multiple hereditary | Hereditary disorder transmitted by an autosomal dominant gene and characterised by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. (12 Dec 1998) |
| eye diseases, hereditary | Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder. (12 Dec 1998) |
| facioscapulohumeral muscular dystrophy | A relatively benign type of muscular dystrophy commencing in childhood and slowly progressive; characterised by wasting and weakness, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, and arms; autosomal dominant inheritance. Synonym: facioscapulohumeral atrophy, Landouzy-Dejerine dystrophy. (05 Mar 2000) |
| Favre's dystrophy | Autosomal recessive bilateral peripheral and central retinoschisis with pigmentary degeneration of the retina, chorioretinal atrophy, vitreous degeneration, and night blindness. Synonym: Favre's dystrophy. (05 Mar 2000) |
| fingerprint dystrophy | A condition wherein fine parallel lines in a fingerprint configuration area are seen in the basal epithelial layer and basement membrane of the corneal epithelium. See: map-dot-fingerprint dystrophy. (05 Mar 2000) |