PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0024408|joseph disease |
| Sentences | 2 |
| PubMedID- 26073430 | Background: machado-joseph disease (mjd), a form of dominantly inherited ataxia belonging to the group of polyq expansion neurodegenerative disorders, occurs when a threshold value for the number of glutamines in ataxin-3 (atx3) polyglutamine region is exceeded. |
| PubMedID- 24604677 | Neurophysiological studies and non-motor symptoms prior to ataxia in a patient with machado-joseph disease: trying to understand the natural history of brain degeneration. |
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