PedAM
Pediatric Disease Annotations & Medicines
| Disease | neuropathy |
| Phenotype | C0013421|dystonia |
| Sentences | 3 |
| PubMedID- 20052369 | This study reemphasizes that the g14459a mutation is a candidate mutation for maternally inherited dystonia, regardless of optic neuropathy, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease. |
| PubMedID- 23091534 | These cases include optic neuropathy with dystonia, parkinsonism, cerebellar ataxia, and myoclonus.3-6 the present case exhibited optic neuropathy with horizontal gaze palsy, gaze-evoked nystagmus, and cerebellar ataxia, and olivocerebellar degeneration on neuroimaging. |
| PubMedID- 22131933 | Focal hand dystonia in a patient with ulnar nerve neuropathy at the elbow. |
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