Catalog

Lethal ataxia with deafness and optic atrophy

No MMS code

Link to WHO Definition

Lethal ataxia with deafness and optic atrophy – http://id.who.int/icd/entity/1859847483

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is a disorder of purine metabolism characterised by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy, susceptibility to infections, and later, flaccid tetraplegia and areflexia.