| SSA | salicylsalicylic acid; sicca syndrome A; skin-sensitizing antibody; skin sympathetic activity; Sjogr... |
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| sympath | sympathetic |
| ALD | Adreno-Leuko-Dystrophy |
| APECED | Autoimmune Poly-Endocrinopathy Candidiasis Ectodermal Dystrophy |
| DMD | Duchenne type Muscular Dystrophy; 악성형 Duchenne형 근이영양증 |
| 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) |
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| 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) |
| 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) |
| 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) |
| 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) |
| 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) |