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PedAM

Pediatric Disease Annotations & Medicines




Disease ataxia
Phenotype C0031117|peripheral neuropathy
Sentences 7
PubMedID- 26054379 In sca2, earlier onset and more severe ataxia were associated with peripheral neuropathy.
PubMedID- 23062006 The disease symptoms include: progressive intention tremor, gait ataxia associated with cognitive decline, peripheral neuropathy, and autonomic dysfunction [1].
PubMedID- 26331046 The predominant features of mfs are ophthalmoplegia and ataxia, with a peripheral neuropathy being only a very mild clinical feature.
PubMedID- 21867371 In adults, coq10 deficiency manifests as adult-onset myopathy or ataxia with variable myopathy, peripheral neuropathy, and/or seizures (14–16).
PubMedID- 24369383 Molecular, clinical and peripheral neuropathy study of tunisian patients with ataxia with vitamin e deficiency.
PubMedID- 25436181 Fxtas is characterized by intention tremor, ataxia leading to frequent falling, peripheral neuropathy, autonomic dysfunction including hypertension, orthostatic hypotension, and cognitive decline [49, 50].
PubMedID- 24719117 Mutations in dnajc29 lead to cerebellar ataxia with peripheral neuropathy, which is referred to as arsacs.

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