Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

IOSCA is a difficult, progressive degenerative disease causing damage to the peripheral and central nervous system. All known 24 patients are Finnish. Initial symptoms include ataxia, athetosis, ophthalmoplegia, hearing disability and muscular hypotonia. Sensory axonal neuropathy and associated optic atrophy are typical of the disease, as well as primary hypergonadotropic hypogonadism in girls. The patients are progressively severely disabled from the age of approx. eighteen months. The pathogenesis is unknown and there is no curative treatment for the disease.
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PMID:[IOSCA - Infantile onset spinocerebellar ataxia]. 2188 47

Dysplasia of the hip, hypotonia, osteopenia, ligamentous laxity, and mental retardation increase the complexity of performing and managing patients with Down syndrome who require total hip replacement (THR). We identified 14 patients (six males, eight females, 21 hips) with Down syndrome and degenerative disease of the hip who underwent THR, with a minimum follow-up of two years from 1969 to 2009. In seven patients, bilateral THRs were performed while the rest had unilateral THRs. The mean clinical follow-up was 5.8 years (standard deviation (sd) 4.7; 2 to 17). The mean Harris hip score was 37.9 points (sd 7.8) pre-operatively and increased to 89.2 (sd 12.3) at final follow-up (p = 1x10(-9)). No patient suffered a post-operative dislocation. In three patients, four hips had revision THR for aseptic loosening at a mean follow-up of 7.7 years (sd 6.3; 3 to 17). This rate of revision THR was higher than expected. Our patients with Down syndrome benefitted clinically from THR at mid-term follow-up.
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PMID:Total hip replacement in patients with Down syndrome and degenerative osteoarthritis of the hip. 2537 56