infantile neuroaxonal dystrophy

(redirected from NBIA, PLA2G6-related)
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in·fan·tile neu·ro·ax·o·nal dys·tro·phy

[MIM*256600]
a rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, positive Babinski sign, hypotonia, and progressive blindness. Pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nervous system nuclei.
Farlex Partner Medical Dictionary © Farlex 2012

in·fan·tile neu·ro·ax·o·nal dys·tro·phy

(in'făn-tīl nūr'ō-ak'sŏ-năl dis'trŏ-fē)
A rare, familial disorder of early childhood manifested as progressive psychomotor deterioration, increased reflexes, Babinski sign, hypotonia, and progressive blindness.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012