Ma·cha·do-Jo·seph disease(mă-sha'dō jō'seph), [MIM*109150]
a rare form of hereditary ataxia, characterized by onset in early adult life of progressive, spinocerebellar and extrapyramidal disease with external ophthalmoplegia, rigidity dystonia symptoms, and, often, peripheral amyotrophy; found predominantly in people of Azorean ancestry; autosomal dominant inheritance, caused by a trinucleotide repeat expansion mutation in the Machado-Joseph gene (MJD1) on 14q.
[Surnames of two families studied in major descriptions of the disease.]
A form of hereditary ataxia present in Portuguese families whose ancestors lived in the Azores. It is a degenerative disease of the nervous system. Symptoms vary but may include gait ataxia, limitation of eye movements, widespread muscle fasciculations, mild cerebellar tremor, loss of reflexes in lower limbs, and extensor plantar reflex response.