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Дитяча нейроаксональна дистрофія

ORPHA:35069· ICD-10 G23.0· Infantile neuroaxonal dystrophy

Визначення(English summary)

Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal