| LCD | coal tar solution [liquor carbonis detergens]; lattice corneal dystrophy; liquid crystal diode; loca... |
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| FMD | Fibro-Muscular Dysplasia |
| IM | 1) Intra-Muscular(ly) (injection); 근육으로, 근육주사 2) Infectious Mononucleus(M... |
| NM | 1) Neuro-Muscular 2) Neo-Mycin |
| VSD | Ventricular Septal Defect ? Types of VSD 1. Subpulmonic(=... |
| 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) |
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| 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) |
| sympathetic reflex dystrophy | A syndrome of pain and tenderness, usually to a hand or foot, associated with vasomotor instability, skin changes and rapid development of bony demineralisation (osteoporosis). Frequently will follow a localised trauma, stroke or peripheral nerve injury. (27 Sep 1997) |
| syndrome, reflex sympathetic dystrophy | A condition that features a group of typical symptoms, including pain (often burning type), tenderness, and swelling of an extremity associated with varying degrees of sweating, warmth and/or coolness, flushing, discoloration, and shiny skin. (12 Dec 1998) |
| Duchenne 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) |
| dystrophy | <pathology> Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. Origin: L. Dystrophia, Gr. Trephein = to nourish (18 Nov 1997) |
| dystrophy, myotonic | Inherited disease with myotonia (irritability and prolonged contraction of muscles), mask-like face, premature balding, cataracts, and cardiac disease. Due to a trinucleotide repeat (a stuttering sequence of three bases) in the DNA. (12 Dec 1998) |
| infantile neuroaxonal dystrophy | <neurology, paediatrics> A rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia and progressive blindness. Pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nervous system nuclei. (05 Mar 2000) |
| oculopharyngeal dystrophy | A dominantly inherited form of chronic progressive external ophthalmoplegia usually presenting in middle life or old age with chronic ptosis and/or difficulty swallowing. Many sufferers have French-Canadian ancestry. (05 Mar 2000) |
| 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) |
| endothelial dystrophy of cornea | Spontaneous loss of corneal endothelium leading to oedema of the corneal stroma and epithelium. (05 Mar 2000) |