Autosomal dominant optic atrophy plus syndrome

Orpha code: 1215OMIM code: 616648

Definicja

A rare neuro-ophthalmological disease 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 or multiple-sclerosis like illness.

Disease data
Klasyfikacja

Disease

Synonimy
DOA+
Atrofia nerwu wzrokowego - głuchota- polineuropatia - miopatia
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
Kod ORPHA
1215
Kod OMIM
616648
Kod ICD10
H47.2
Kod ICD11
9C40.8

No additional description.

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