| neuropathies, hereditary motor and sensory | A group of slowly progressive inherited disorders in which the predominant involvement is the peripheral motor neurons with lesser involvement of the peripheral sensory neurons. Neuronal degeneration and atrophy are characteristic of these disorders. Some of the associated characteristics are phytanic acid excess, optic atrophy, and retinitis pigmentosa. (12 Dec 1998) |
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| neuropathies, hereditary sensory and autonomic | A group of inherited disorders in which there is selective involvement of the peripheral sensory and autonomic neurons and degeneration of fibres by axonal atrophy and degeneration. Five types of disorders have been described and classified type I through type v. (12 Dec 1998) |
| 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) |
| 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) |