neuroaxonal dystrophy

neu·ro·ax·o·nal dys·tro·phy

a rare disorder that begins in the second year of life and is relentlessly progressive; clinically characterized initially by walking difficulties, weakness, and areflexia, later followed by corticospinal and pseudobulbar findings, blindness, loss of pain appreciation, and mental deterioration; pathologically, eosinophilic spheroids of swollen axoplasm are found in various central nuclei; autosomal recessive inheritance.
References in periodicals archive ?
Atlantic Health System also offers clinical trials for conditions including: phenylketonuria, infantile neuroaxonal dystrophy, fragile X Syndrome and lysosomal storage disorders such as Fabry disease, Gaucher disease, mucopolysaccharidoses, Pompe disease and Niemann-Pick Disease.
MFSD8###Neuronal Ceroid Lipofuscinosis-7###PLA2G6###Infantile Neuroaxonal Dystrophy 1
Grace Herschelman, 7-year-old Montgomery County resident was diagnosed with infantile neuroaxonal dystrophy in November 2014 when she was just 3 years old.
Some of the NBIA disorders include aceruloplasminemia, fatty acid hydroxylase-associated neurodegeneration, infantile neuroaxonal dystrophy, Kufor-Rakeb syndrome, neuroaxonal dystrophy, neuroferritinopathy.
Pope Benedict also blessed 18-month-old Alexander Frame, who has an incurable genetic disorder called neuroaxonal dystrophy.
New topics include infantile neuroaxonal dystrophy, neuronal migration disorders, meningococcal vaccines, pneumococcal meningitis, rivastigmine, Pervasive Developmental Disorders, and TORCH Disorders.
The work, supported by the children's medical research charity WellChild, has also uncovered a genetic mutation, which causes Infantile Neuroaxonal Dystrophy that slowly degenerates the nerves throughout a child's body and ultimately results in death.
He is suffering from rare condition called neuroaxonal dystrophy for which there is no cure.