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Гігантська аксональна нейропатія

ORPHA:643· ICD-10 G60.8· Giant axonal neuropathy

Визначення(English summary)

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Childhood, Infancy