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