eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neurodegeneration with brain iron accumulation 1 |
| Comorbidity | C0013421|dystonia |
| Sentences | 4 |
| PubMedID- 25802776 | Pallidal stimulation (gpi dbs) has been carried out in selected cases of pkan with drug-resistant dystonia with variable results. |
| PubMedID- 25819806 | Background: to look for microstructural white matter alterations in patients with dystonia due to pantothenate kinase-associated neurodegeneration. |
| PubMedID- 23277004 | This has encouraged the application of dbs technology to treat a number of other neurodegenerative conditions, including secondary dystonia associated with pantothenate kinase-associated neurodegeneration (pkan, formerly hallervorden-spatz syndrome), chorea associated with huntington's disease, and most recently, cognitive decline associated with alzheimer's type dementia. |
| PubMedID- 22993450 | pkan presents with generalised dystonia with buccofacial and lingual involvement, often in the form of severe jaw opening dystonia, although not specifically related to feeding as in chorea-acanthocytosis (online supplementary video 2).14 parkinsonism may be a presenting symptom, and choreoathetosis, tics and pyramidal signs may also occur. |
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