| IS | ileal segment; immediate sensitivity; immune serum; immunosuppression; impingement syndrome; incenti... |
|---|---|
| LIAFI | late infantile amaurotic familial idiocy |
| LIMM | lethal infantile mitochondrial myopathy |
| PIP | paralytic infantile paralysis; peak inflation pressure, peak inspiratory pressure; periodic interim ... |
| ALD | Adreno-Leuko-Dystrophy |
| 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) |
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| 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) |
| hypertrophic dystrophy | Increase in the number of cells in a squamous epithelium. Synonym: hypertrophic dystrophy. (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) |
| Duchenne muscular dystrophy | A specific form of muscular dystrophy that is inherited as a sex-linked recessive trait and thus confined to young males and to females with Turner's syndrome. One third of all cases are estimated to be new mutational events. See: dystrophin. It is characterised by degeneration and necrosis of skeletal muscle fibres, that are replaced by fat and fibrous tissue. Symptoms include muscle weakness and in some forms, the appearance of muscle enlargement (pseudo-hypertrophy). Advanced cases can include weakness of the respiratory muscles (compromising breathing) and cardiomyopathy. Inheritance: sex-linked recessive. Incidence: 1 in 4000 male births. (11 Nov 1997) |
| 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) |
| 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) |
| 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) |