locked-in syndrome
| Gerstmann-Straussler-Scheinker syndrome | <syndrome> A familial spongiform encephalopathy. Transgenic mice with a mutant form of the PrP gene from patients with this syndrome develop degenerative brain disease that is similar, but not identical, to that caused by scrapie. It is a more chronic cerebellar form of spongiform encephalopathy, producing a neurodegenerative condition that has morphological similarities to Creutzfeldt-Jakob syndrome. However, in this syndrome there is slower progression, signs of spinocerebellar ataxia, and the spongiosis is less pronounced. Prion proteins and amyloid plaques are found in the brain of patients with the syndrome. A germline mutation of the prion protein has been demonstrated. (12 Jul 2000) |
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| Gerstmann syndrome | <syndrome> Tetrad of finger agnosia, dysgraphia or agraphia, dyscalculia or acalculia, and right-left disorientation producing confusion of laterality of the body. The syndrome can occur in brain-damaged and apparently normal children as well as in adults who have had vascular accidents, and is caused by lesions between the occipital area and the angular gyrus. (12 Jul 2000) |
| Parinaud's oculoglandular syndrome | <syndrome> Unilateral conjunctival granuloma with preauricular adenopathy in tularaemia, chancre, and tuberculosis. (05 Mar 2000) |
| Parinaud's syndrome | <syndrome> Paralysis of conjugate upward gaze with a lesion at the level of the superior colliculi; Bell's phenomenon is present. Synonym: Parinaud's ophthalmoplegia. (05 Mar 2000) |
| parinaud syndrome | <radiology> Paralysis of upward gaze, also known as: supranuclear palsy, compression of tectal (quadrigeminal) plate, by pineal mass (12 Dec 1998) |
| massive bowel resection syndrome | <syndrome> Malabsorption following extensive resection of the bowel, particularly the small intestine, characterised by diarrhoea, steatorrhoea, hypoproteinaemia, and malnutrition. (05 Mar 2000) |
| MASS syndrome | <syndrome> A syndrome closely resembling both the Marfan's syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. at present it has been assigned no separate OMIM number, but shares that of the Barlow syndrome. Origin: mitral valve prolapse, aortic anomalies, skeletal changes, and skin changes. (05 Mar 2000) |
| Gianotti-Crosti syndrome | <syndrome> A cutaneous manifestation of hepatitis B infection occurring in young children; an exanthem comprised of dusky papules on the legs, buttocks, and extensors of the arms; it lasts 2 to 8 weeks and is associated with adenopathy and malaise. Synonym: papular acrodermatitis of childhood. (05 Mar 2000) |
| Gilbert's syndrome | <syndrome> An inherited disorder that affects the way bilirubin in handled by the liver. Thought to be due to an inborn error of bilirubin metabolism. Symptoms include mild jaundice, weakness, fatigue, nausea and abdominal pain. (27 Sep 1997) |
| maternal deprivation syndrome | <syndrome> A failure to thrive seen in infants and young children and exhibited as a constellation of physical signs, symptoms, and behaviours, usually associated with maternal loss, absence or neglect, and characterised by lack of responsiveness to the environment and often depression. (05 Mar 2000) |
| Gilles de la Tourette's syndrome | <syndrome> Both multiple motor and one or more vocal tics present with tics occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (dsm-IV, 1994) (12 Dec 1998) |
| cataract-oligophrenia syndrome | <syndrome> A rare neurologic disorder characterised by cerebellolental degeneration with mental retardation; autosomal recessive inheritance. Synonym: cataract-oligophrenia syndrome, Marinesco-Sjogren syndrome, Torsten Sjogren's syndrome. (05 Mar 2000) |
| Parsonage-Turner syndrome | A neurological disorder, of unknown cause, characterised by the sudden onset of severe pain, usually about the shoulder and often beginning at night, soon followed by weakness and wasting of various forequarter muscles, particularly shoulder girdle muscles; both sporadic and familial in occurrence with the former much more common; often preceded by some antecedent event, such as an upper respiratory infection, hospitalization, vaccination, or non-specific trauma; usually attributed to a brachial plexus lesion, because the nerve fibres involed are most often derived from the upper trunk, but actually multiple proximal mononeuropathies. Synonym: acute brachial radiculitis, brachial plexitis, brachial plexus neuropathy, Parsonage-Turner syndrome, shoulder-girdle syndrome. (05 Mar 2000) |
| Refetoff syndrome | <syndrome> A condition characterised by goiter and elevated serum level of thyroid hormones without manifestations of thyrotoxicosis, due to target organ unresponsiveness to thyroid hormones. (05 Mar 2000) |
| vibration syndrome | <syndrome> Tingling, numbness, and blanching of the fingers resulting from use of hand-held vibration tools; may persist without further exposure to vibration. (05 Mar 2000) |