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PedAM

Pediatric Disease Annotations & Medicines




Disease cardiomyopathy
Phenotype C0442874|neuropathy
Sentences 3
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- 21999467 Although various animal models have been used to investigate diabetes-related changes in the myocardium including interstitial fibrosis, cardiomyocyte loss, impaired energy utilization, small vessel disease and neuropathy, the pathophysiology of diabetic cardiomyopathy remains to be fully elucidated [10].
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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