PedAM
Pediatric Disease Annotations & Medicines
| Disease | cerebellar ataxia |
| Phenotype | C0004134|ataxia |
| Sentences | 5 |
| PubMedID- 22191034 | Overall our data support the suggestion that long-term coordinative training improves motor performance and reduces ataxia symptoms in patients with cerebellar ataxia [19, 20]. |
| PubMedID- 25614784 | The clinical features resemble those of friedreich’s ataxia with cerebellar ataxia, loss of deep tendon reflexes, vibratory–sense disturbances, dysarthria, and babinski sign. |
| PubMedID- 23200550 | This limitation is particularly important in neurology with many conditions such as huntington's disease, myotonic dystrophy, friedreich's ataxia and forms of spinocerebellar ataxia occurring due to trinucleotide repeat expansions [30,31] and hence disorders with a similar genotypic abnormality may not be detected with exome sequencing. |
| PubMedID- 22036850 | Conclusions: these observations highlight the importance of screening for a potentially treatable cause, cabc1/adck3 mutations, not only in severe childhood-onset ataxia, but also in patients with mild cerebellar ataxia in adult life. |
| PubMedID- 21866205 | Spectral domain optical coherence tomography was performed on 29 ataxia patients with genetically proven spinocerebellar ataxia (sca) 1, 2, 3, or 6, or multisystem atrophy type c (msa-c) and 27 age-matched normal subjects. |
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