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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Giant Axonal Neuropathy | Legal notice |
Other terms
Axonal Neuropathies, Giant,Axonal Neuropathy, Giant,Giant Axonal Neuropathies,Neuropathies, Giant Axonal,Neuropathy, Giant Axonal,Giant Axonal Neuropathy (GAN),Axonal Neuropathies, Giant (GAN),Axonal Neuropathy, Giant (GAN),Giant Axonal Neuropathies (GAN),Neuropathies, Giant Axonal (GAN),Neuropathy, Giant Axonal (GAN),Giant Axonal Neuropathy 1,Giant Axonal Neuropathy 1 (GAN1)
Description
Giant Axonal Neuropathy: Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (mental retardation, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS).
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- Hereditary Sensory and Motor Neuropathy
- Peripheral Nervous System Diseases
- Hereditary Sensory and Motor Neuropathy
- Hereditary Sensory and Motor Neuropathy
- Hereditary Sensory and Motor Neuropathy
Legal notice
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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