PedAM
Pediatric Disease Annotations & Medicines
| Disease | neuropathy |
| Phenotype | C0878544|cardiomyopathy |
| Sentences | 2 |
| PubMedID- 21687738 | The consequence of deficiency on frataxin is that patients have progressive gait and limb ataxia, slurred speech, and peripheral axonal neuropathy associated with hypertrophic cardiomyopathy, diabetes mellitus or glucose intolerance and skeletal deformities. |
| PubMedID- 25206731 | It is characterized by choreic movements, peripheral neuropathy with areflexia, myopathy, cardiomyopathy (about two-thirds of patients), elevated serum creatine kinase levels and a permanent hemolytic state[35]. |
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