| spinal muscular atrophy | <radiology> 2nd most common autosomal recessive disease in Caucasians, pathology, degeneration of the spinal anterior horn cells, atrophy and wasting of skeletal muscles, types, SMA I = Werdnig-Hoffman disease: rapidly progressive, SMA II = intermediate form, SMA III = Kugelberg-Welander disease: slowly progressive, uncommon adult forms, usual presentations, floppy baby, arthrogryposis, muscle weakness in infancy, diagnosis, weakness and wasting with areflexia, electrophysiology shows anterior horm cell disease, genetics, linked to chromosome 5q., neuronal apoptosis inhibitory protein (NAIP) gene, survival motor neuron (SMN) gene (12 Dec 1998) |
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| idiopathic muscular atrophy | A form of progressive muscular atrophy in which the disease begins in the muscle and not in the spinal centres. Synonym: Erb atrophy, idiopathic muscular atrophy. (05 Mar 2000) |
| infantile muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| infantile spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| ischemic muscular atrophy | See: Volkmann's contracture. (05 Mar 2000) |
| familial spinal muscular atrophy | Transmitted as autosomal recessive on chromosome 5q. Progressive dysfunction of the anterior horn cells in the spinal cord and brainstem cranial nerves with profound weakness and bulbar dysfunction occurring in the first two years of life. Three groups, based on age of clinical onset, are recognised. Synonym: familial spinal muscular atrophy, Hoffmann's muscular atrophy, infantile muscular atrophy, infantile progressive spinal muscular atrophy, progressive infantile spinal muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann muscular atrophy. (05 Mar 2000) |
| arthritis, juvenile rheumatoid | Rheumatoid arthritis of children occurring in three major subtypes defined by the symptoms present during the first six months following onset: systemic-onset (still's disease, juvenile-onset) polyarticular-onset, and pauciarticular-onset. Adult-onset cases of still's disease (still's disease, adult-onset) are also known. Only one subtype of juvenile rheumatoid arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent. (12 Dec 1998) |
| benign juvenile melanoma | A benign, slightly pigmented or red superficial small skin tumour composed of spindle-shaped, epithelioid, and multinucleated cells that may appear atypical; most common in children, but also appearing in adults. Synonym: benign juvenile melanoma, epithelioid cell nevus, spindle cell nevus. (05 Mar 2000) |
| rheumatoid arthritis, systemic-onset juvenile | Also known as systemic-onset juvenile chronic arthritis. Still's disease presents with systemic (bodywide) illness including high intermittent fever, a salmon-coloured skin rash, swollen lymph glands, enlargement of the liver and spleen, and inflammation of the lungs (pleuritis) and around the heart (pericarditis). The arthritis may not be immediately apparent but it does appear and may persist after the systemic symptoms are gone. (12 Dec 1998) |
| periodontitis, juvenile | Localised periodontitis in teenagers and young adults. The onset is during the circumpubertal period but the diagnosis can be made beyond puberty. Lesions are confined predominantly to the first permanent molars or incisors and the distribution of lesions is usually symmetrical. The gingiva may appear normal. The lesions are highly active immediately following puberty but later destruction may slow or cease spontaneously. The disease is four times more prevalent in females than males and more prevalent in african americans than in other races or ethnic groups. (12 Dec 1998) |
| xanthogranuloma, juvenile | Benign disorder of infants and children characterised by multiple nodules with lipid-laden, non-langerhans-cell histiocytes. (12 Dec 1998) |
| systemic-onset juvenile chronic arthritis | See: Systemic-onset juvenile rheumatoid arthritis (still's disease). (12 Dec 1998) |
| systemic-onset juvenile rheumatoid arthritis | <rheumatology> A form of joint disease, arthritis, that presents with systemic upset. Clinical signs: high intermittent fever, a salmon-coloured skin rash, swollen lymph glands, enlargement of the liver and spleen, and inflammation of the lungs (pleuritis) and around the heart (pericarditis). The arthritis itself may not be immediately apparent but once apparent, it may persist after the systemic symptoms have resolved. Synonym: Still's disease. (03 Jul 1999) |
| juvenile | Pertaining to youth or childhood, young or immature. (18 Nov 1997) |
| juvenile absence epilepsy | A generalised epilepsy syndrome with onset around puberty, characterised by absence seizures and generalised tonic-clonic seizures. EEG often shows a greater than 3 Hz generalised spike wave pattern. (05 Mar 2000) |