early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
MONDO:0019064
hereditary spastic paraplegia
is_a
NDGOA
related
SPG79
related
neurodegeneration with optic atrophy, childhood-onset
related