Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy (DOA+)

Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy, also known as dominant optic atrophy plus syndrome, is related to optic atrophy 1 and autosomal dominant optic atrophy, and has symptoms including ataxia, muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy is OPA1 (OPA1 Mitochondrial Dynamin Like GTPase), and among its related pathways/superpathways is CAMKK2 pathway. The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and heart, and related phenotypes are spasticity and ataxia