Article

Infantile Neuroaxonal Dystrophy: A Case Report and Review of Literature

2024-06-28

Abstract excerpt

Infantile Neuroaxonal Dystrophy (INAD) is a rare neurodegenerative disorder, affecting 1:1,000,000 population. It results from pathogenic variants in the PLA2G6 gene located on chromosome (22q13.1). The onset of symptoms usually occurs between 6 to 18 months, causing developmental regression leading to debilitating symptoms such as muscle weakness, dementia, and loss of basic skills. Eventually, it progresses to l...

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Literature Corpus work: 1451532e-1c4a-5b7b-94ad-44d04e96477b
DOI: 10.20944/preprints202406.1988.v1

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