PedAM
Pediatric Disease Annotations & Medicines
| Disease | dysautonomia |
| Phenotype | C0878544|cardiomyopathy |
| Sentences | 1 |
| PubMedID- PMC4641999 | Three phenotypes were identified, each corresponding to a different ttr variant, homogeneous within and heterogeneous between each other: i) glu89gln mutation, characterised by 5th to 6th decade onset, neuropathy as presenting symptoms, early heart dysfunction, cardiomyopathy as major cause of mortality followed by dysautonomia and cachexia; ii) phe64leu mutation, marked by familiarity reported in one-half of cases, late onset, severe peripheral neuropathy, moderate dysautonomia and mild cardiomyopathy, death for wasting syndrome; iii) thr49ala mutation, distinguished by onset in the 5th decade, autonomic disturbances as inaugural symptoms which may remain isolated for many years, moderate polyneuropathy, cachexia as major cause of mortality followed by cardiomyopathy. |
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