| MARS | magnetic anchor retinal stimulation; methionyl-transfer ribonucleic acid synthetase; mouse antirat s... |
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| NRC | National Research Council; National Response Center; normal retinal correspondence; not routine care... |
| PRE | photoreacting enzyme; physician's report of examination; pigmented retinal epithelium; preplacement ... |
| RDS | Raskin Depression Scale; respiratory distress syndrome; reticuloendothelial depressing substance; rh... |
| RDT | retinal damage threshold; routine dialysis therapy |
| 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) |
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| 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) |
| hereditary | <genetics> Transferred via genes from parent to child. (16 Dec 1997) |
| hereditary amyloidosis | <neurology> A disorder in which various peripheral nerves are infiltrated with amyloid and their functions disturbed, an abnormal prealbumin is also formed and is present in the blood; characteristically, it begins during mid-life and is found largely in persons of Portuguese descent. Other rare clinical types occur. Inheritance: autosomal dominant. Synonym: familial amyloidosis, hereditary amyloidosis. (05 Mar 2000) |
| hereditary angioedema | 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 angioneurotic oedema. (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) |
| hereditary angioneurotic oedema | 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) |
| hereditary angio oedema | <biochemistry> Condition in which there seems to be uncontrolled production of C2 kinin because of a deficiency in C1 inhibitor levels. (18 Nov 1997) |
| hereditary areflexic dystasia | A rare autosomal dominant neurological disorder with many of the clinical features of hereditary hypertrophic sensorimotor polyneuropathy combined with an essential tremor. Synonym: hereditary areflexic dystasia. (05 Mar 2000) |
| hereditary ataxia | A simple autosomal recessive trait in fox terrier dogs that produces a progressive general ataxia. (05 Mar 2000) |
| hereditary benign intraepithelial dyskeratosis | An autosomal dominant condition consisting of white spongy lesions of the buccal mucosa, floor of the mouth, ventral lateral tongue, gingiva and palate. Transient gelatinous plaques form over the cornea, which may produce temporary blindness, hereditary benign intraepithelial dyskeratosis. Synonym: hereditary benign intraepithelial dyskeratosis. (05 Mar 2000) |
| hereditary cerebellar ataxia | A disease of later childhood and early adult life, marked by ataxic gait, hesitating and explosive speech, nystagmus, and sometimes optic neuritis. It probably comprises several distinct conditions with diverse patterns of inheritance. Collective term for a number of hereditary disorders in which cerebellar signs are the most prominent finding. (05 Mar 2000) |
| hereditary chorea | A progressive disorder usually beginning in young to middle age, consisting of a triad of choreoathetosis, dementia, and autosomal dominant inheritance with complete penetrance. Bilateral marked wasting of the putamen and the head of the caudate nucleus is characteristic. Synonym: chronic progressive chorea, degenerative chorea, hereditary chorea, Huntington's disease. (05 Mar 2000) |