eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | charcot-marie-tooth disease type 1a |
| Comorbidity | C0442874|neuropathy |
| Sentences | 5 |
| PubMedID- 22996176 | Conclusions: ccm demonstrates significant damage to c-fiber bundles, which relates to some measures of neuropathy in cmt1a patients. |
| PubMedID- 20963465 | Experimental studies showed that progesterone antagonist improves neuropathy in cmt1a rats, and it represents a promising pharmacologic target for cmt1a patients [19, 20]. |
| PubMedID- 24041033 | Both hereditary sensorimotor neuropathy due to pmp22 duplication (cmt1a) and facioscapulohumeral muscular dystrophy (fshd) due to a shortened fragment of the d4z4 locus (19 kb) were identified in the described patient. |
| PubMedID- 23797954 | Importance: no current medications improve neuropathy in subjects with charcot-marie-tooth disease type 1a (cmt1a). |
| PubMedID- 21274281 | This demonstrates a rather different phenotype, referred to as charcot-marie-tooth disease type 1a with demyelinating neuropathy [11–13]. |
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