/early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Rare Disease

MONDO:0014209

Also Known As

NDGOASPG79neurodegeneration with optic atrophy, childhood-onsetspastic paraplegia 79, autosomal recessive

Definition

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.