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Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair.

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  • Giant axonal neuropathy
  • Neuropathie à axones géants
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  • La neuropathie à axones géants est une neuropathie sévère à début précoce. Cette neuropathie est à la fois motrice et sensitive. Il existe aussi des manifestations d'une atteinte du système nerveux central comme des convulsions, des troubles cérébelleux, un syndrome pyramidal et un retard mental. Les cheveux des personnes atteintes sont souvent très légèrement frisés.
  • Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair.
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  • Giant axonal neuropathy
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  • Giant axonal neuropathy
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  • La neuropathie à axones géants est une neuropathie sévère à début précoce. Cette neuropathie est à la fois motrice et sensitive. Il existe aussi des manifestations d'une atteinte du système nerveux central comme des convulsions, des troubles cérébelleux, un syndrome pyramidal et un retard mental. Les cheveux des personnes atteintes sont souvent très légèrement frisés.
  • Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair.
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  • Giant axonal neuropathy has an autosomal recessive pattern of inheritance.
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  • Giant Axonal Neuropathy
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  • NBK1136
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  • G60.8
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