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PedAM

Pediatric Disease Annotations & Medicines




Disease cerebellar degeneration
Symptom C0004134|ataxia
Sentences 11
PubMedID- 24164873 Functional disability related to ataxia was evaluated with the spinocerebellar degeneration functional score (sdfs: 0: no functional handicap; 1: no functional handicap but signs at examination; 2: mild, able to run; 3: moderate, unable to run; 4: severe, walking with one stick, unlimited walking; 5: walking with two sticks; 6: unable to walk, requiring a wheelchair; 7: bedridden).
PubMedID- 24781836 Quantitative analysis of upper-limb ataxia in patients with spinocerebellar degeneration.
PubMedID- 24708620 131 (49.43%) out of 265 thai ataxia families with cerebellar degeneration had positive tests for sca1, sca2, machado-joseph disease (mjd) or sca6.
PubMedID- 23847498 Finally, 24 patients diagnosed with cerebellar ataxia (ca) due to global cerebellar degeneration were recruited.
PubMedID- 24860647 In addition to severe ataxia due to cerebellar degeneration, ataxia telangiectasia patients also have increased risk of lymphomas and leukemias, as well as immune defect .
PubMedID- 25806046 Furthermore, cerebellar degeneration coincides with onset of ataxia and a mild tremor that ultimately deteriorates to severely impaired coordination and motor function.
PubMedID- 24877117 This strategy was tested in an intraindividual case-control design in 16 patients suffering from progressive ataxia due to cerebellar degeneration (n = 10) or degeneration of afferent pathways (n = 6) .
PubMedID- 22811713 This is a multisystemic genetic human disorder characterized by a conjunctival telangiectasia and by a cerebellar degeneration leading to progressive ataxia .
PubMedID- 24434313 Hq mice are viable and show various organ-specific disease phenotypes (table) including cerebellar degeneration leading to ataxia and retinal degeneration leading to blindness52.
PubMedID- 20087742 Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder.
PubMedID- 26217208 People with cerebellar degeneration (resulting from spinocerebellar ataxia, sporadic adult onset ataxia, or autosomal dominant ataxia) have demonstrated slower movements, a more deviant trajectory and a larger hand aperture (brandauer et al., 2008).

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