Infantile neuroaxonal dystrophy (Q95981)

Infantile neuroaxonal dystrophy (INAD) is one of the three phenotypes with overlapping clinical and radiologic features of PLA2G6-associated neurodegeneration (PLAN) a variant of Neurodegeneration with brain iron accumulation (NBIA). INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade.