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Autosomal dominant optic atrophy plus syndrome

MONDO:0014720

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

Also known as: DOA+, optic atrophy type 8, optic atrophy-deafness-polyneuropathy-myopathy syndrome, Treft-Sanborn-Carey syndrome, dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy, optic atrophy - deafness- polyneuropathy - myopathy

38 clinical trials for this condition and its sub-types.

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Sub-types

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (0) Optic atrophy 8 (0) Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant (0) Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (0)

Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodegenerative disease (155) Central nervous system disorder (97) Eye disorder (97) Mitochondrial disease (39) Optic nerve disorder (19) Human disease (14) Inherited neurodegenerative disorder (10)
Trials to join now! 19 Not yet recruiting 2 Not yet finished but already full! 8 Completed 7 Terminated 2
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