| MDFD | map-dot-fingerprint dystrophy |
|---|---|
| MDP | manic-depressive psychosis; maximum diastolic potential; maximum digital pulse; methylene diphosphat... |
| MDPK | myotonic dystrophy protein kinase |
| MMD | mass median diameter; minimum morbidostatic dose; moyamoya disease; myotonic muscular dystrophy |
| MyD | myotonic dystrophy |
| 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) |
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| 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) |
| oedema, hereditary angioneurotic | A genetic form of angioedema. (Angioedema is also referred to as Quinke's disease.) Persons with it are born lacking an inhibitor protein (called C1 esterase inhibitor) that normally prevents activation of a cascade of proteins leading to the swelling of angioedema. Patients can develop recurrent attacks of swollen tissues, pain in the abdomen, and swelling of the voice box (larynx) which can compromise breathing. The diagnosis is suspected with a history of recurrent angioedema. It is confirmed by finding abnormally low levels of C1 esterase inhibitor in the blood. Treatment options include antihistamines and male steroids (androgens) that can also prevent the recurrent attacks. Also called hereditary angioedema. (12 Dec 1998) |
| optic atrophy, hereditary | An inherited disorder in which optic atrophy is associated with muscle weakness, peroneal muscular atrophy and, in some patients, lancinating pains. In these patients the peripheral sensory neurons are probably affected. (12 Dec 1998) |
| telangiectasia, hereditary haemorrhagic | An autosomal dominant vascular anomaly characterised by the presence of multiple small telangiectases of the skin, mucous membranes, gastrointestinal tract, and other organs, associated with recurrent episodes of bleeding from affected sites and gross or occult melena. (12 Dec 1998) |
| 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) |
| elliptocytosis, hereditary | An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape. (12 Dec 1998) |
| 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) |
| exostoses, multiple hereditary | Hereditary disorder transmitted by an autosomal dominant gene and characterised by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. (12 Dec 1998) |