- dystrophy
- Progressive changes that may result from defective nutrition of a tissue or organ. SYN: dystrophia. [dys- + G. trophe, nourishment]- adiposogenital d. a disorder characterized primarily by obesity and hypogonadotrophic hypogonadism in adolescent boys; dwarfism is rare, and when present is thought to reflect hypothyroidism. Visual loss, behavioral abnormalities, and diabetes insipidus may occur. Fröhlich syndrome often is used synonymously for this disorder. Although the original case involved a pituitary tumor, most cases are thought to result from hypothalamic dysfunction in areas regulating appetite and gonadal development. The most common causes are pituitary and hypothalamic neoplasms. SYN: adiposis orchica, adiposogenital degeneration, adiposogenital syndrome, dystrophia adiposogenitalis, Fröhlich syndrome, hypophysial syndrome, hypothalamic obesity with hypogonadism, Launois-Cléret syndrome.- adult foveomacular retinal d. an autosomal dominant disorder presenting in the fifth decade with a mild decrease in vision and subfoveal, round yellow lesion with a central hyperpigmented spot.- anterior corneal d. corneal opacification with involvement of the epithelium, basement membrane, or Bowman membrane of the cornea.- asphyxiating thoracic d. [MIM*208500] hereditary hypoplasia of the thorax, associated with pelvic skeletal abnormality. SYN: asphyxiating thoracic chondrodystrophy, asphyxiating thoracic dysplasia, Jeune syndrome, thoracic-pelvic-phalangeal d..- Becker muscular d. a hereditary muscle disorder of late onset, usually in the second or third decade, affecting the proximal muscles with characteristic pseudohypertrophy of the calves; clinical features similar to Duchenne muscular d. but much milder and not a genetic lethal; X-linked recessive inheritance, with both Becker and Duchenne dystrophies caused by mutation in the dystrophin gene on Xp. Cf.:Duchenne d.. SYN: adult pseudohypertrophic muscular d., Becker-type tardive muscular d..- central areolar choroidal d. an autosomal dominant progressive disorder of vision loss with well-demarcated areas of atrophy of retinal pigment epithelium and choriocapillaris.- central cloudy corneal d. of François an autosomal dominant opacification of the central corneal stroma consisting of cloudy polygonal areas.- central crystalline corneal d. of Snyder an autosomal dominant opacification of the central corneal stroma by needle-shaped polychromatic crystals.- Cogan d. SYN: map-dot-fingerprint d..- cone d. a retinal abnormality in which color perception is severely deficient and typical changes occur in electroretinogram. See achromatopsia. SYN: cone degeneration.- cone-rod retinal d. a disorder affecting the retinal cones more than the rods, characterized by diminished central vision and color vision.- congenital hereditary endothelial d. a dominantly or recessively inherited condition characterized by a cloudy, thickened cornea at birth or in the neonatal period.- corneal d. [MIM*217600] central corneal opacification, usually bilateral, symmetrical, involving predominantly epithelial, stromal, or endothelial layers, often in a typical pattern; autosomal recessive inheritance.- craniocarpotarsal d. [MIM*193700] a syndrome characterized by specific facial features with sunken eyes, hypertelorism, long philtrum, small nose, and small mouth with pursing of lips as in whistling, and skeletal malformations with ulnar deviation of hands, camptodactyly, talipes equinovarus, and frontal bone defects; autosomal dominant inheritance. SYN: craniocarpotarsal dysplasia, Freeman-Sheldon syndrome, whistling face syndrome.- Duchenne d. the most common childhood muscular d., with onset usually before age 6. Characterized by symmetric 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). SYN: childhood muscular d., Duchenne disease, pseudohypertrophic muscular d..- Emery-Dreifuss muscular d. a generally benign type of muscular d., 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 muscular d..- facioscapulohumeral muscular d. [MIM*158900] a highly variable hereditary disorder with onset in childhood or adolescence, characterized by weakness and wasting, sometimes asymmetrical, mainly of the muscles of the face, shoulder girdle, arms, and later, pelvic girdle and legs; autosomal dominant inheritance. SYN: facioscapulohumeral atrophy, Landouzy-Dejerine d..- Favre d. SYN: vitreotapetoretinal d..- fingerprint d. 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 ALSO: map-dot-fingerprint d..- fleck d. of cornea [MIM*121850] a bilateral occurrence of subtle spots in the corneal stroma; the spots vary in size and shape, and have sharp margins and clear centers; photophobia may occur; autosomal dominant inheritance.- Fuchs endothelial d. common corneal d. with autosomal dominant inheritance, characterized by keratopathia guttata with loss of endothelium and progressive corneal edema.- gelatinous droplike corneal d. a bilateral, autosomal recessive condition characterized by mulberrylike elevated amyloid deposits involving the epithelium and anterior corneal stroma.- granular corneal d. an autosomal dominant disorder characterized by hyaline deposits in the corneal stroma.- Groenouw corneal d. 1. a granular type of corneal d., with autosomal dominant inheritance [MIM*121900], caused by mutation in the transforming growth factor, beta-induced, gene (TGFB1) encoding keratoepithelin on chromosome 5q; 2. a progressive macular type of corneal d., characterized by punctate opacities and episodes of photophobia, corneal erosion, and foreign body sensation; autosomal recessive inheritance.- gutter d. of cornea a marginal furrow usually inferiorly about 1 mm from the limbus; and sometimes bilateral. SYN: keratoleptynsis (1).- infantile neuroaxonal d. 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.- lattice corneal d. [MIM*122200] a corneal d. due to localized accumulation of amyloid in a reticular pattern; manifest at puberty and progressing slowly until eventually useful vision is lost; autosomal dominant inheritance, caused by mutation in the transforming growth factor, beta-induced, gene (TGFB1) encoding keratoepithelin on 5q.- limb-girdle muscular d. [MIM*253600] a group of muscular dystrophies, probably heterogeneous in nature. Onset usually in childhood or early adulthood and both sexes affected. Characterized 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. Autosomal dominant and recessive inheritance have been described. SYN: Leyden-Möbius muscular d., pelvofemoral muscular d., scapulohumeral muscular d..- macular corneal d. an autosomal recessive disorder characterized by glycosaminoglycan deposits in the corneal stroma.- macular retinal d. a group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. See Stargardt disease, Best disease.- map-dot-fingerprint d. fingerprint d. accompanied by maplike patterns and microcystic epithelial inclusions. SYN: Cogan d..- Meesman d. [MIM*122100] epithelial d. characterized by progressive cysts and opacities of the corneal epithelium, with onset in infancy; autosomal dominant inheritance with incomplete penetrance. SYN: hereditary epithelial d..- microcystic epithelial d. bilateral, symmetrical intraepithelial cysts in the central area of the cornea of healthy women, without hereditary predisposition.- mucopolysaccharide keratin d. a histologic finding seen in the surface epithelium of oral inflammatory fibrous hyperplasia, consisting of homogeneous eosinophilic pools of material in the superficial spinous layer.- muscular d. a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems as well. SYN: myodystrophy, myodystrophia.- myotonic d. [MIM*160900] the most common adult muscular d., characterized by progressive muscle weakness and wasting of some of the cranial innervated muscles, as well as the distal limb muscles; other clinical features include myotonia, cataracts, hypogonadism, cardiac abnormalities, and frontal balding; onset usually in the the third decade; autosomal dominant inheritance caused by abnormal trinucleotide repeat expansion in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q. This disorder demonstrates anticipation (increase in severity in successive generations because of successive amplification of the trinucleotide repeats); the severe congenital form is almost always confined to the offspring of affected women. SYN: dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Steinert disease.- neuroaxonal d. a rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterized 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.- oculopharyngeal d. 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.- pattern retinal d. a spectrum of autosomal dominant diseases affecting the retinal pigment epithelium, leading to mild to moderate vision loss.- posterior polymorphous corneal d. an autosomal dominant condition characterized by vesicular and linear abnormalities of the corneal endothelium; occasionally leads to corneal edema.- pre-Descemet corneal d. opacification with primary involvement of the posterior stroma of the cornea.- reflex sympathetic d. (RSD) diffuse persistent pain usually in an extremity often associated with vasomotor disturbances, trophic changes, and limitation or immobility of joints; frequently follows some local injury. SEE ALSO: causalgia. SYN: shoulder-hand syndrome, sympathetic reflex d..- Reis-Bücklers corneal d. an autosomal dominant disorder of Bowman membrane of the cornea, characterized by a reticular haze and associated with recurrent corneal erosions.- ringlike corneal d. [MIM*121900] threadlike opacities of the anterior corneal stroma, with acute, painful onset followed by decreased vision; autosomal dominant inheritance, caused by mutationin the transforming growth factor, beta-induced, gene (TGFB1) encoding keratoepithelium on chromosome 5q.- twenty-nail d. longitudinal ridging of all of the nails; seen in alopecia areata and lichen planus.- vitreotapetoretinal d. [MIM*268100] autosomal recessive bilateral peripheral and central retinoschisis with pigmentary degeneration of the retina, chorioretinal atrophy, vitreous degeneration, and night blindness. SYN: Favre d..- vortex corneal d. a swirling pattern of abnormally pigmented corneal epithelial cells, seen in Fabry disease and in response to certain medications (including chloroquine, chlorpromazine, and amiodarone).- vulvar d. a spectrum of vulvar eruptions consisting of white atrophic papules, including lichen sclerosus et atrophicus, squamous cell hyperplasia (hypertrophic d.), or a combination of these (mixed d.). SEE ALSO: lichen sclerosus et atrophicus.
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1) a condition produced by faulty nutrition <waters with a high fluorine content are responsible for the dental \dystrophy known as mottled enamel (Lancet)>* * *
n.a disorder of an organ or tissue, usually muscle, due to impaired nourishment of the affected part. The term is applied to several unrelated conditions; for example, muscular dystrophy, Fuchs' endothelial dystrophy, and dystrophia adiposogenitalis (see Fröhlich's syndrome).* * *
dys·tro·phy (disґtrə-fe) [L. dystrophia, q.v.] 1. any disorder arising from defective or faulty nutrition. 2. muscular d. dystrophic adj
Medical dictionary. 2011.
