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Diagnosis, treatment and genetic analysis of a child with infantile neuroaxonal dystrophy.

Yi chuan = Hereditas - 20 Jul 2023

Gong Wei-da, Tao Gang, Zhao Tian-Tian, Yang Yue, Ji Hong

Abstract excerpt

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disease characterized by early hypotonia, and rapid progression to psychomotor development regression, pyramidal tract positivity, and spastic quadriplegia. In this report, we describe a Chinese patient with INAD who presented with hypotonia, delayed motor and language development, and subsequently improved with rehabilitation...

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PMID: 37503585
DOI: 10.16288/j.yczz.23-034

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