| APECED | Autoimmune Poly-Endocrinopathy Candidiasis Ectodermal Dystrophy |
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| MLD | Metachromatic Leuko-Dystrophy |
| RSDS | Reflex Sympathetic Dystrophy Syndrome |
| APECED | autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy |
| ASMD | anterior segment mesenchymal dysgenesis; atonic sclerotic muscle dystrophy |
| 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) |
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| 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) |
| twenty-nail dystrophy | Longitudinal ridging of all of the nails; seen in alopecia areata and lichen planus. (05 Mar 2000) |
| 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) |
| fleck dystrophy of cornea | A bilateral occurrence of subtle spots in the corneal stroma; the spots vary in size and shape, and have sharp margins and clear centres; photophobia may occur; autosomal dominant inheritance. (05 Mar 2000) |
| Landouzy-Dejerine 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) |
| fuchs' endothelial dystrophy | Disorder caused by loss of endothelium of the central cornea. It is characterised by hyaline endothelial outgrowths on descemet's membrane, epithelial blisters, reduced vision, and pain. (12 Dec 1998) |
| Fuchs' epithelial dystrophy | Epithelial oedema secondary to endothelial dystrophy of the cornea. (05 Mar 2000) |
| Leyden-Mobius 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) |